{"id":"https://openalex.org/W2991095675","doi":"https://doi.org/10.1021/acs.jcim.9b00852","title":"Computing the Pathogenicity of Wilson\u2019s Disease ATP7B Mutations: Implications for Disease Prevalence","display_name":"Computing the Pathogenicity of Wilson\u2019s Disease ATP7B Mutations: Implications for Disease Prevalence","publication_year":2019,"publication_date":"2019-11-21","ids":{"openalex":"https://openalex.org/W2991095675","doi":"https://doi.org/10.1021/acs.jcim.9b00852","mag":"2991095675","pmid":"https://pubmed.ncbi.nlm.nih.gov/31751128"},"language":"en","primary_location":{"id":"doi:10.1021/acs.jcim.9b00852","is_oa":false,"landing_page_url":"https://doi.org/10.1021/acs.jcim.9b00852","pdf_url":null,"source":{"id":"https://openalex.org/S167262187","display_name":"Journal of Chemical Information and Modeling","issn_l":"1549-9596","issn":["1549-9596","1549-960X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320006","host_organization_name":"American Chemical Society","host_organization_lineage":["https://openalex.org/P4310320006"],"host_organization_lineage_names":["American Chemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Chemical Information and Modeling","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://orbit.dtu.dk/en/publications/6582edf1-d2b8-49d6-a17c-292275af8802","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083834047","display_name":"Ning Tang","orcid":"https://orcid.org/0000-0002-1281-7769"},"institutions":[{"id":"https://openalex.org/I96673099","display_name":"Technical University of Denmark","ror":"https://ror.org/04qtj9h94","country_code":"DK","type":"education","lineage":["https://openalex.org/I96673099"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Ning Tang","raw_affiliation_strings":["DTU Chemistry, Technical University of Denmark, Kemitorvet 206, 2800 Kongens Lyngby, Denmark"],"raw_orcid":"https://orcid.org/0000-0002-1281-7769","affiliations":[{"raw_affiliation_string":"DTU Chemistry, Technical University of Denmark, Kemitorvet 206, 2800 Kongens Lyngby, Denmark","institution_ids":["https://openalex.org/I96673099"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014477154","display_name":"Thomas Damgaard Sandahl","orcid":"https://orcid.org/0000-0001-9807-6852"},"institutions":[{"id":"https://openalex.org/I2802335433","display_name":"Aarhus University Hospital","ror":"https://ror.org/040r8fr65","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802335433"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Thomas D. Sandahl","raw_affiliation_strings":["Department of Hepatology and Gastroenterology, Aarhus University Hospital, 8200 Aarhus, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hepatology and Gastroenterology, Aarhus University Hospital, 8200 Aarhus, Denmark","institution_ids":["https://openalex.org/I2802335433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005923405","display_name":"Peter Ott","orcid":"https://orcid.org/0000-0002-3088-1983"},"institutions":[{"id":"https://openalex.org/I2802335433","display_name":"Aarhus University Hospital","ror":"https://ror.org/040r8fr65","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802335433"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Peter Ott","raw_affiliation_strings":["Department of Hepatology and Gastroenterology, Aarhus University Hospital, 8200 Aarhus, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hepatology and Gastroenterology, Aarhus University Hospital, 8200 Aarhus, Denmark","institution_ids":["https://openalex.org/I2802335433"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084810235","display_name":"Kasper P. Kepp","orcid":"https://orcid.org/0000-0002-6754-7348"},"institutions":[{"id":"https://openalex.org/I96673099","display_name":"Technical University of Denmark","ror":"https://ror.org/04qtj9h94","country_code":"DK","type":"education","lineage":["https://openalex.org/I96673099"]}],"countries":["DK"],"is_corresponding":true,"raw_author_name":"Kasper P. Kepp","raw_affiliation_strings":["DTU Chemistry, Technical University of Denmark, Kemitorvet 206, 2800 Kongens Lyngby, Denmark"],"raw_orcid":"https://orcid.org/0000-0002-6754-7348","affiliations":[{"raw_affiliation_string":"DTU Chemistry, Technical University of Denmark, Kemitorvet 206, 2800 Kongens Lyngby, Denmark","institution_ids":["https://openalex.org/I96673099"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5084810235"],"corresponding_institution_ids":["https://openalex.org/I96673099"],"apc_list":null,"apc_paid":null,"fwci":1.1235,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.76403301,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"59","issue":"12","first_page":"5230","last_page":"5243"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10790","display_name":"Heavy Metal Exposure and Toxicity","score":0.9624999761581421,"subfield":{"id":"https://openalex.org/subfields/2307","display_name":"Health, Toxicology and Mutagenesis"},"field":{"id":"https://openalex.org/fields/23","display_name":"Environmental Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9577999711036682,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.7336781024932861},{"id":"https://openalex.org/keywords/missense-mutation","display_name":"Missense mutation","score":0.6755150556564331},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5269604325294495},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.45112767815589905},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4504823684692383},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.44239112734794617},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.4150259494781494},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.2792292833328247},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.10100057721138}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.7336781024932861},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6755150556564331},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5269604325294495},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45112767815589905},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4504823684692383},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44239112734794617},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4150259494781494},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2792292833328247},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10100057721138}],"mesh":[{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1021/acs.jcim.9b00852","is_oa":false,"landing_page_url":"https://doi.org/10.1021/acs.jcim.9b00852","pdf_url":null,"source":{"id":"https://openalex.org/S167262187","display_name":"Journal of Chemical Information and Modeling","issn_l":"1549-9596","issn":["1549-9596","1549-960X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320006","host_organization_name":"American Chemical Society","host_organization_lineage":["https://openalex.org/P4310320006"],"host_organization_lineage_names":["American Chemical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Chemical Information and Modeling","raw_type":"journal-article"},{"id":"pmid:31751128","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31751128","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of chemical information and modeling","raw_type":null},{"id":"pmh:oai:pure.atira.dk:publications/0fe0aae4-b5ed-4915-b3fb-1d7d57af1d71","is_oa":false,"landing_page_url":"https://pure.au.dk/portal/en/publications/0fe0aae4-b5ed-4915-b3fb-1d7d57af1d71","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Tang, N, Sandahl, T D, Ott, P & Kepp, K P 2019, 'Computing the Pathogenicity of Wilson\u2019s Disease ATP7B Mutations : Implications for Disease Prevalence', Journal of Chemical Information and Modeling, vol. 59, no. 12, pp. 5230-5243. https://doi.org/10.1021/acs.jcim.9b00852","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:publications/6582edf1-d2b8-49d6-a17c-292275af8802","is_oa":true,"landing_page_url":"https://orbit.dtu.dk/en/publications/6582edf1-d2b8-49d6-a17c-292275af8802","pdf_url":null,"source":{"id":"https://openalex.org/S4306400705","display_name":"Technical University of Denmark, DTU Orbit (Technical University of Denmark, DTU)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I96673099","host_organization_name":"Technical University of Denmark","host_organization_lineage":["https://openalex.org/I96673099"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Tang , N , Damgaard Sandahl , T , Ott , P & Kepp , K P 2019 , ' Computing the Pathogenicity of Wilson\u2019s Disease ATP7B Mutations: Implications for Disease Prevalence ' , Journal of Chemical Information and Modeling , vol. 59 , no. 12 , pp. 5230-5243 . https://doi.org/10.1021/acs.jcim.9b00852","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:pure.atira.dk:publications/6582edf1-d2b8-49d6-a17c-292275af8802","is_oa":true,"landing_page_url":"https://orbit.dtu.dk/en/publications/6582edf1-d2b8-49d6-a17c-292275af8802","pdf_url":null,"source":{"id":"https://openalex.org/S4306400705","display_name":"Technical University of Denmark, DTU Orbit (Technical University of Denmark, DTU)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I96673099","host_organization_name":"Technical University of Denmark","host_organization_lineage":["https://openalex.org/I96673099"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Tang , N , Damgaard Sandahl , T , Ott , P & Kepp , K P 2019 , ' Computing the Pathogenicity of Wilson\u2019s Disease ATP7B Mutations: Implications for Disease Prevalence ' , Journal of Chemical Information and Modeling , vol. 59 , no. 12 , pp. 5230-5243 . https://doi.org/10.1021/acs.jcim.9b00852","raw_type":"article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.46000000834465027}],"awards":[{"id":"https://openalex.org/G4069896949","display_name":null,"funder_award_id":"7016-00079B","funder_id":"https://openalex.org/F4320322928","funder_display_name":"Danmarks Frie Forskningsfond"}],"funders":[{"id":"https://openalex.org/F4320322928","display_name":"Danmarks Frie Forskningsfond","ror":"https://ror.org/02sptwz63"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":110,"referenced_works":["https://openalex.org/W579166296","https://openalex.org/W911764875","https://openalex.org/W1594096205","https://openalex.org/W1783395440","https://openalex.org/W1920876971","https://openalex.org/W1970127992","https://openalex.org/W1974599488","https://openalex.org/W1975701000","https://openalex.org/W1977221972","https://openalex.org/W1977645238","https://openalex.org/W1979323699","https://openalex.org/W1979762151","https://openalex.org/W1981231263","https://openalex.org/W1983723576","https://openalex.org/W1987516951","https://openalex.org/W1990939702","https://openalex.org/W1996657322","https://openalex.org/W2002052142","https://openalex.org/W2005756796","https://openalex.org/W2008662159","https://openalex.org/W2009174018","https://openalex.org/W2013425283","https://openalex.org/W2016325045","https://openalex.org/W2023490488","https://openalex.org/W2024405748","https://openalex.org/W2031553026","https://openalex.org/W2031579849","https://openalex.org/W2041781080","https://openalex.org/W2044740902","https://openalex.org/W2047016099","https://openalex.org/W2049849193","https://openalex.org/W2051210555","https://openalex.org/W2051978340","https://openalex.org/W2052868118","https://openalex.org/W2059145105","https://openalex.org/W2060840676","https://openalex.org/W2061042699","https://openalex.org/W2063274819","https://openalex.org/W2064488723","https://openalex.org/W2066543796","https://openalex.org/W2066614521","https://openalex.org/W2074721039","https://openalex.org/W2076048958","https://openalex.org/W2080473579","https://openalex.org/W2084803199","https://openalex.org/W2087820907","https://openalex.org/W2088537303","https://openalex.org/W2088771598","https://openalex.org/W2093861673","https://openalex.org/W2100625171","https://openalex.org/W2103459989","https://openalex.org/W2107867854","https://openalex.org/W2114029728","https://openalex.org/W2115148114","https://openalex.org/W2115503115","https://openalex.org/W2116087540","https://openalex.org/W2118189054","https://openalex.org/W2120717592","https://openalex.org/W2121276544","https://openalex.org/W2128995100","https://openalex.org/W2132722165","https://openalex.org/W2134224836","https://openalex.org/W2136513422","https://openalex.org/W2143190548","https://openalex.org/W2143238378","https://openalex.org/W2144218198","https://openalex.org/W2148395280","https://openalex.org/W2150195578","https://openalex.org/W2153457180","https://openalex.org/W2159373390","https://openalex.org/W2164257153","https://openalex.org/W2168394540","https://openalex.org/W2169478909","https://openalex.org/W2173518071","https://openalex.org/W2215596087","https://openalex.org/W2234487053","https://openalex.org/W2245592118","https://openalex.org/W2256016639","https://openalex.org/W2261234804","https://openalex.org/W2262896633","https://openalex.org/W2298358682","https://openalex.org/W2310980987","https://openalex.org/W2318528671","https://openalex.org/W2326486590","https://openalex.org/W2376573086","https://openalex.org/W2507758315","https://openalex.org/W2515590865","https://openalex.org/W2604342372","https://openalex.org/W2606439133","https://openalex.org/W2615841538","https://openalex.org/W2689645361","https://openalex.org/W2767798137","https://openalex.org/W2774216375","https://openalex.org/W2783306577","https://openalex.org/W2786065430","https://openalex.org/W2805229637","https://openalex.org/W2887294797","https://openalex.org/W2890069589","https://openalex.org/W2890968050","https://openalex.org/W2891343948","https://openalex.org/W2891947356","https://openalex.org/W2892224630","https://openalex.org/W2912438090","https://openalex.org/W2913078802","https://openalex.org/W2944147295","https://openalex.org/W2949250633","https://openalex.org/W2988538745","https://openalex.org/W3102341076","https://openalex.org/W4211041131","https://openalex.org/W4255594044"],"related_works":["https://openalex.org/W3004443428","https://openalex.org/W4361004911","https://openalex.org/W1971719088","https://openalex.org/W2625862723","https://openalex.org/W2612068534","https://openalex.org/W4289526060","https://openalex.org/W2594013754","https://openalex.org/W2388990391","https://openalex.org/W2069150591","https://openalex.org/W4232163425"],"abstract_inverted_index":{"Genetic":[0],"variations":[1],"in":[2],"the":[3,6,11,24,67,70,76,80,83,121,188,195,199],"gene":[4],"encoding":[5],"copper-transport":[7],"protein":[8],"ATP7B":[9,61,112],"are":[10,36,184],"primary":[12],"cause":[13],"of":[14,59,69,78,82,94,198,225],"Wilson\u2019s":[15,125,226],"disease.":[16,227],"Controversially,":[17],"clinical":[18],"prevalence":[19,25,127,143],"seems":[20],"much":[21],"smaller":[22],"than":[23,144],"estimated":[26],"by":[27],"genetic":[28],"screening":[29],"tools,":[30],"causing":[31],"fear":[32],"that":[33,66,103,108,138,169],"many":[34,111,135],"people":[35],"undiagnosed,":[37],"although":[38],"early":[39],"diagnosis":[40],"and":[41,98,130,149,159,210],"treatment":[42],"is":[43],"essential.":[44],"To":[45],"address":[46],"this":[47],"issue,":[48],"we":[49],"benchmarked":[50],"16":[51],"state-of-the-art":[52],"computational":[53,136],"disease-prediction":[54],"methods":[55,71,84,105,133],"against":[56,92],"established":[57],"data":[58,93],"missense":[60],"mutations.":[62,100],"Our":[63],"results":[64],"show":[65,75,168],"quality":[68],"varies":[72],"widely.":[73],"We":[74,101,166],"importance":[77],"optimizing":[79],"threshold":[81,155],"used":[85],"to":[86,114,140,180],"distinguish":[87,157],"pathogenic":[88,97,158],"from":[89],"nonpathogenic":[90,99,160],"mutations":[91,113,161],"clinically":[95,145],"confirmed":[96],"find":[102],"most":[104],"use":[106],"thresholds":[107],"predict":[109],"too":[110],"be":[115,215],"pathogenic.":[116],"Thus,":[117],"our":[118],"findings":[119,213],"explain":[120],"current":[122],"controversy":[123],"on":[124,194],"disease":[126,142],"because":[128],"meta-analysis":[129],"text":[131],"search":[132],"include":[134],"estimates":[137],"lead":[139],"higher":[141],"observed.":[146],"As":[147],"proteins":[148],"diseases":[150],"differ":[151],"widely,":[152],"a":[153,191,216,220],"one-size-fits-all":[154],"cannot":[156],"efficiently,":[162],"as":[163],"shown":[164],"here.":[165],"also":[167],"amino":[170,181],"acid":[171,182],"changes":[172],"with":[173,187],"small":[174],"evolutionary":[175],"substitution":[176],"probability,":[177],"mainly":[178],"due":[179],"volume,":[183],"more":[185,221],"associated":[186],"disease,":[189],"implying":[190],"pathological":[192],"effect":[193],"conformational":[196],"state":[197],"protein,":[200],"which":[201],"could":[202],"affect":[203],"copper":[204],"transport":[205],"or":[206],"adenosine":[207],"triphosphate":[208],"recognition":[209],"hydrolysis.":[211],"These":[212],"may":[214],"first":[217],"step":[218],"toward":[219],"quantitative":[222],"genotype\u2013phenotype":[223],"relationship":[224]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}