Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings

AIMS: Rare variants in the KCNQ1 gene are found in the healthy population to a much greater extent than the prevalence of Long QT Syndrome type 1 (LQTS1). This observation creates challenges in the interpretation of KCNQ1 rare variants that may be identified as secondary findings in whole exome sequ...

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Detalles Bibliográficos
Autores principales: Novelli, Valeria, Faultless, Trent, Cerrone, Marina, Care, Melanie, Manzoni, Martina, Bober, Sara L, Adler, Arnon, De-Giorgio, Fabio, Spears, Danna, Gollob, Michael H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10637310/
https://www.ncbi.nlm.nih.gov/pubmed/37897496
http://dx.doi.org/10.1093/europace/euad317

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