{"id":"https://openalex.org/W86972051","doi":"https://doi.org/10.1182/blood.v87.10.4424.bloodjournal87104424","title":"Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity","display_name":"Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity","publication_year":1996,"publication_date":"1996-05-15","ids":{"openalex":"https://openalex.org/W86972051","doi":"https://doi.org/10.1182/blood.v87.10.4424.bloodjournal87104424","mag":"86972051","pmid":"https://pubmed.ncbi.nlm.nih.gov/8639804"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v87.10.4424.bloodjournal87104424","doi":"https://doi.org/10.1182/blood.v87.10.4424.bloodjournal87104424","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v87.10.4424.bloodjournal87104424","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101686733","display_name":"Takayuki Yamashita","orcid":"https://orcid.org/0000-0003-2074-9310","observed_orcids":["https://orcid.org/0000-0003-2074-9310"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T Yamashita","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":null,"display_name":"N Wu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N Wu","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079834643","display_name":"Gary M. Kupfer","orcid":"https://orcid.org/0000-0002-3988-2894","observed_orcids":["https://orcid.org/0000-0002-3988-2894"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G Kupfer","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026593581","display_name":"Christopher L. Corless","orcid":"https://orcid.org/0000-0003-4871-8364","observed_orcids":["https://orcid.org/0000-0003-4871-8364"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C Corless","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048187845","display_name":"Hans Joenje","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H Joenje","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067712261","display_name":"Markus Grompe","orcid":"https://orcid.org/0000-0002-6616-4345","observed_orcids":["https://orcid.org/0000-0002-6616-4345"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M Grompe","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044648110","display_name":"Alan D. D\u2019Andrea","orcid":"https://orcid.org/0000-0001-6168-6294","observed_orcids":["https://orcid.org/0000-0001-6168-6294","https://orcid.org/0000-0002-3672-8760"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"AD D'Andrea","raw_affiliation_strings":["Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":2.6155,"has_fulltext":false,"cited_by_count":91,"citation_normalized_percentile":{"value":0.9057254,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"87","issue":"10","first_page":"4424","last_page":"4432"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.8939999938011169,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.8939999938011169,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.08399999886751175,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0026000000070780516,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fanconi-anemia","display_name":"Fanconi anemia","score":0.9120000004768372},{"id":"https://openalex.org/keywords/clinical-heterogeneity","display_name":"clinical heterogeneity","score":0.7039999961853027},{"id":"https://openalex.org/keywords/mitomycin-c-sensitivity","display_name":"mitomycin C sensitivity","score":0.9350000023841858},{"id":"https://openalex.org/keywords/cdna-overexpression","display_name":"cDNA overexpression","score":0.6610000133514404},{"id":"https://openalex.org/keywords/patient-derived-cell-lines","display_name":"patient-derived cell lines","score":0.7239999771118164}],"concepts":[{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.7590768337249756},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.6491631865501404},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6065064072608948},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6062931418418884},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5878934264183044},{"id":"https://openalex.org/C188082640","wikidata":"https://www.wikidata.org/wiki/Q1780899","display_name":"Complementation","level":4,"score":0.5578579902648926},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.47655943036079407},{"id":"https://openalex.org/C2780912031","wikidata":"https://www.wikidata.org/wiki/Q180341","display_name":"Methionine","level":3,"score":0.42848607897758484},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4030807912349701},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3395478427410126},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.2747019827365875},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.19572991132736206}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002453","descriptor_name":"Cell Cycle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002461","descriptor_name":"Cell Line, Transformed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004351","descriptor_name":"Drug Resistance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004854","descriptor_name":"Herpesvirus 4, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","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":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014176","descriptor_name":"Protein Biosynthesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016685","descriptor_name":"Mitomycin","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052218","descriptor_name":"Fanconi Anemia Complementation Group C Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1182/blood.v87.10.4424.bloodjournal87104424","doi":"https://doi.org/10.1182/blood.v87.10.4424.bloodjournal87104424","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v87.10.4424.bloodjournal87104424","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmid:8639804","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8639804","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,"listed_in":[],"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":"Blood","raw_type":"Comparative Study"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4914748069","display_name":null,"funder_award_id":"R01-HL5725","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W187160811","https://openalex.org/W327514080","https://openalex.org/W804453397","https://openalex.org/W1496574262","https://openalex.org/W1562232013","https://openalex.org/W1583606054","https://openalex.org/W1601895528","https://openalex.org/W1835174359","https://openalex.org/W1934523516","https://openalex.org/W1964274155","https://openalex.org/W1966264632","https://openalex.org/W1993808141","https://openalex.org/W1999725652","https://openalex.org/W2016785483","https://openalex.org/W2020733732","https://openalex.org/W2029026115","https://openalex.org/W2044530341","https://openalex.org/W2045348184","https://openalex.org/W2052781240","https://openalex.org/W2065417936","https://openalex.org/W2073827764","https://openalex.org/W2076560706","https://openalex.org/W2082172922","https://openalex.org/W2091632648","https://openalex.org/W2094639302","https://openalex.org/W2095178139","https://openalex.org/W2095935754","https://openalex.org/W2112473094","https://openalex.org/W2237812909","https://openalex.org/W2465174048"],"related_works":["https://openalex.org/W1601895528","https://openalex.org/W16620579","https://openalex.org/W2097990135","https://openalex.org/W1974154287","https://openalex.org/W2528621901","https://openalex.org/W2084194591","https://openalex.org/W7162733624","https://openalex.org/W2054965243","https://openalex.org/W7098587214","https://openalex.org/W2140716445"],"abstract_inverted_index":{"Fanconi":[0],"anemia":[1],"(FA)":[2],"is":[3],"an":[4,122,154,170],"autosomal":[5],"recessive":[6],"disease":[7],"characterized":[8],"by":[9],"congenital":[10],"anomalies,":[11],"aplastic":[12],"anemia,":[13],"and":[14,41],"cancer":[15],"susceptibility.":[16],"Mutations":[17],"within":[18],"the":[19,69,84,97,108,137,182],"FA":[20,32,66,80],"complementation":[21],"group":[22],"C":[23,164],"(FAC)":[24],"gene":[25],"account":[26,52],"for":[27,53,87,96,181],"approximately":[28],"14%":[29],"of":[30,55,99,127,148,162,169],"diagnosed":[31],"cases.":[33],"Two":[34],"mutations,":[35],"one":[36,42],"in":[37,43,63,78,153,159,179],"exon":[38,44],"1":[39],"(delG322)":[40],"4":[45,48,72,140],"(IVS4":[46],"+":[47,71,139],"A":[49,73,141],"to":[50,74,120,142],"T),":[51],"90%":[54],"known":[56],"FAC":[57,102,114,128,174],"mutations.":[58],"The":[59],"delG322":[60,109],"mutation":[61,76,110,144],"results":[62,77],"a":[64,112,149],"mild":[65],"phenotype,":[67],"while":[68],"IVS4":[70,138],"T":[75,143],"severe":[79],"phenotype.":[81],"To":[82],"determine":[83],"molecular":[85],"basis":[86],"this":[88],"clinical":[89,183],"variability,":[90],"we":[91],"analyzed":[92],"patient-derived":[93],"cell":[94,105,134,156],"lines":[95,106,135],"expression":[98,168],"characteristic":[100],"mutant":[101],"polypeptides.":[103],"All":[104,133],"with":[107,136],"expressed":[111],"50-kD":[113],"polypeptides,":[115],"FRP-50":[116,152],"(FAC-related":[117],"protein),":[118],"shown":[119],"be":[121],"amino":[123,171],"terminal":[124,172],"truncated":[125,173],"isoform":[126],"reinitiated":[129],"at":[130,177],"methionine":[131],"55.":[132],"lacked":[145],"FRP-50.":[146],"Overexpression":[147],"cDNA":[150],"encoding":[151],"FA(C)":[155,186],"line":[157],"resulted":[158],"partial":[160],"correction":[161],"mitomycin":[163],"sensitivity.":[165],"In":[166],"conclusion,":[167],"protein":[175],"accounts,":[176],"least":[178],"part,":[180],"heterogeneity":[184],"among":[185],"patients.":[187]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}