{"id":"https://openalex.org/W4409166303","doi":"https://doi.org/10.3389/fcvm.2025.1552423","title":"Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report","display_name":"Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report","publication_year":2025,"publication_date":"2025-04-04","ids":{"openalex":"https://openalex.org/W4409166303","doi":"https://doi.org/10.3389/fcvm.2025.1552423","pmid":"https://pubmed.ncbi.nlm.nih.gov/40255339","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12006191"},"language":"en","primary_location":{"id":"doi:10.3389/fcvm.2025.1552423","doi":"https://doi.org/10.3389/fcvm.2025.1552423","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fcvm.2025.1552423","pdf_url":null,"source":{"id":"https://openalex.org/S2595413687","display_name":"Frontiers in Cardiovascular Medicine","issn_l":"2297-055X","issn":["2297-055X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-40","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Cardiovascular Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3389/fcvm.2025.1552423","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5079074364","display_name":"Viviana A. Ruiz\u2010Pozo","orcid":"https://orcid.org/0000-0001-9301-2614","observed_orcids":["https://orcid.org/0000-0001-9301-2614"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Viviana A. Ruiz-Pozo","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004104130","display_name":"Santiago Cadena-Ullauri","orcid":"https://orcid.org/0000-0001-8463-6046","observed_orcids":["https://orcid.org/0000-0001-8463-6046"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Santiago Cadena-Ullauri","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074567304","display_name":"Elius Paz\u2010Cruz","orcid":"https://orcid.org/0000-0003-0062-6030","observed_orcids":["https://orcid.org/0000-0003-0062-6030"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Elius Paz-Cruz","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010580419","display_name":"Rafael Tamayo\u2010Trujillo","orcid":"https://orcid.org/0000-0001-9059-3281","observed_orcids":["https://orcid.org/0000-0001-9059-3281"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Rafael Tamayo-Trujillo","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068857247","display_name":"Patricia Guevara\u2010Ram\u00edrez","orcid":"https://orcid.org/0000-0002-4829-3653","observed_orcids":["https://orcid.org/0000-0002-4829-3653"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Patricia Guevara-Ramirez","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116928979","display_name":"Paul Onofre-Ruiz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Paul Onofre-Ruiz","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073359409","display_name":"Ana Karina Zambrano","orcid":"https://orcid.org/0000-0003-4102-3965","observed_orcids":["https://orcid.org/0000-0003-4102-3965"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":true,"raw_author_name":"Ana Karina Zambrano","raw_affiliation_strings":["Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5073359409"],"corresponding_institution_ids":["https://openalex.org/I4210091861"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":1.2377,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.78748831,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":96},"biblio":{"volume":"12","issue":null,"first_page":"1552423","last_page":"1552423"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0010000000474974513,"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/T11677","display_name":"Congenital heart defects research","score":0.0005000000237487257,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/nkx2-5","display_name":"Nkx2.5","score":0.9959999918937683},{"id":"https://openalex.org/keywords/atrioventricular-block","display_name":"atrioventricular block","score":0.8870000243186951},{"id":"https://openalex.org/keywords/bradycardia","display_name":"bradycardia","score":0.9860000014305115},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.843999981880188},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.9440000057220459},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.9470000267028809},{"id":"https://openalex.org/keywords/genetic-ancestry","display_name":"genetic ancestry","score":0.6230000257492065},{"id":"https://openalex.org/keywords/mestizo-population","display_name":"mestizo population","score":0.9169999957084656},{"id":"https://openalex.org/keywords/heart-development","display_name":"heart development","score":0.527999997138977},{"id":"https://openalex.org/keywords/transcription-factors","display_name":"transcription factors","score":0.460999995470047},{"id":"https://openalex.org/keywords/personalized-diagnostics","display_name":"personalized diagnosis","score":0.3330000042915344}],"concepts":[{"id":"https://openalex.org/C2777495988","wikidata":"https://www.wikidata.org/wiki/Q217111","display_name":"Bradycardia","level":4,"score":0.750322699546814},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7370737195014954},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6706920862197876},{"id":"https://openalex.org/C2778557577","wikidata":"https://www.wikidata.org/wiki/Q300121","display_name":"Atrioventricular block","level":2,"score":0.5625841617584229},{"id":"https://openalex.org/C2776661526","wikidata":"https://www.wikidata.org/wiki/Q1361515","display_name":"Heart block","level":3,"score":0.419666051864624},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.41202640533447266},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.39309921860694885},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.393058717250824},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.3809989094734192},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3761996030807495},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3450964391231537},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21501591801643372},{"id":"https://openalex.org/C2780040984","wikidata":"https://www.wikidata.org/wiki/Q79785","display_name":"Electrocardiography","level":2,"score":0.19970446825027466},{"id":"https://openalex.org/C2777953023","wikidata":"https://www.wikidata.org/wiki/Q1073121","display_name":"Heart rate","level":3,"score":0.15982884168624878},{"id":"https://openalex.org/C84393581","wikidata":"https://www.wikidata.org/wiki/Q82642","display_name":"Blood pressure","level":2,"score":0.1071576476097107}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.3389/fcvm.2025.1552423","doi":"https://doi.org/10.3389/fcvm.2025.1552423","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fcvm.2025.1552423","pdf_url":null,"source":{"id":"https://openalex.org/S2595413687","display_name":"Frontiers in Cardiovascular Medicine","issn_l":"2297-055X","issn":["2297-055X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-40","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Cardiovascular Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12006191","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12006191","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Cardiovasc Med","raw_type":"Text"},{"id":"pmid:40255339","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40255339","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":"Frontiers in cardiovascular medicine","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:4a3d955b688749c69435e4c255b8d554","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/4a3d955b688749c69435e4c255b8d554","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Cardiovascular Medicine, Vol 12 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fcvm.2025.1552423","doi":"https://doi.org/10.3389/fcvm.2025.1552423","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fcvm.2025.1552423","pdf_url":null,"source":{"id":"https://openalex.org/S2595413687","display_name":"Frontiers in Cardiovascular Medicine","issn_l":"2297-055X","issn":["2297-055X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-40","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Cardiovascular Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W1967125495","https://openalex.org/W1967408543","https://openalex.org/W1974775172","https://openalex.org/W1980885493","https://openalex.org/W2013353345","https://openalex.org/W2040686597","https://openalex.org/W2051978340","https://openalex.org/W2101419322","https://openalex.org/W2117253910","https://openalex.org/W2128087375","https://openalex.org/W2152915235","https://openalex.org/W2467693594","https://openalex.org/W2886152035","https://openalex.org/W2905452503","https://openalex.org/W2954509979","https://openalex.org/W2962423504","https://openalex.org/W2967605415","https://openalex.org/W2990850057","https://openalex.org/W3021006213","https://openalex.org/W3145742937","https://openalex.org/W3178866285","https://openalex.org/W3179623148","https://openalex.org/W3192422236","https://openalex.org/W3209435229","https://openalex.org/W4200452024","https://openalex.org/W4214592811","https://openalex.org/W4282052934","https://openalex.org/W4308593427","https://openalex.org/W4328113315","https://openalex.org/W4386861232","https://openalex.org/W4388271336","https://openalex.org/W4389379124","https://openalex.org/W4399788471","https://openalex.org/W4401001859","https://openalex.org/W4401054343"],"related_works":["https://openalex.org/W7124682463","https://openalex.org/W7129650901","https://openalex.org/W4282052934","https://openalex.org/W4386660929","https://openalex.org/W2591337090","https://openalex.org/W4225689441","https://openalex.org/W4412157560","https://openalex.org/W1974775172","https://openalex.org/W2149190789","https://openalex.org/W2810482000"],"abstract_inverted_index":{"Cardiovascular":[0],"diseases":[1,19],"(CVDs)":[2],"are":[3],"the":[4,38,49,63,92,116,154,159,163,182],"leading":[5],"global":[6],"cause":[7],"of":[8,51,95,127,138,165],"mortality,":[9],"with":[10,55,101],"South":[11],"America":[12],"reflecting":[13],"similar":[14],"trends.":[15],"Among":[16],"congenital":[17],"heart":[18,72],"(CHDs),":[20],"atrioventricular":[21],"(AV)":[22],"block":[23,27,103],"is":[24,28],"included.":[25],"AV":[26,60,87,102],"a":[29,68,96,110,125,135,150],"condition":[30],"defined":[31],"by":[32,107],"abnormal":[33],"electrical":[34],"signal":[35],"transmission":[36],"between":[37,153],"atria":[39],"and":[40,74,76,86,104,122,143,158,168,175],"ventricles.":[41],"Advances":[42],"in":[43,71,78,115,177],"Next-Generation":[44],"Sequencing":[45],"(NGS)":[46],"have":[47,81],"facilitated":[48],"identification":[50],"genetic":[52,136],"variants":[53],"associated":[54],"cardiac":[56],"disorders,":[57],"such":[58,180],"as":[59,124,181],"block.":[61,88],"Notably,":[62],"transcription":[64],"factor":[65],"NKX2-5":[66,117,156],"plays":[67],"crucial":[69],"role":[70],"development":[73],"function,":[75],"mutations":[77],"this":[79],"gene":[80,118],"been":[82,120],"linked":[83],"to":[84,171],"bradycardia":[85],"This":[89],"article":[90],"describes":[91],"case":[93],"report":[94],"young":[97],"Ecuadorian":[98],"child":[99],"diagnosed":[100],"bradycardia.":[105],"Furthermore,":[106],"performing":[108],"NGS,":[109],"missense":[111],"variant,":[112],"p.(Tyr274Ser)":[113],"substitution,":[114],"has":[119,133],"identified":[121,155],"classified":[123],"variant":[126,157],"uncertain":[128],"significance":[129],"(VUS).":[130],"Ancestral":[131],"analysis":[132],"shown":[134],"background":[137],"16.5%":[139],"African,":[140],"45.9%":[141],"European,":[142],"37.6%":[144],"Native":[145],"American.":[146],"These":[147],"findings":[148],"suggest":[149],"potential":[151],"association":[152],"patient's":[160],"phenotype,":[161],"highlighting":[162],"importance":[164],"integrating":[166],"genomic":[167],"ancestral":[169],"analyses":[170],"advance":[172],"personalized":[173],"diagnostics":[174],"therapeutics":[176],"diverse":[178],"populations,":[179],"mestizo":[183],"population.":[184]},"counts_by_year":[{"year":2026,"cited_by_count":2}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2025-04-05T00:00:00"}
