The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing. We estimated penetrance through large-scale analyses of individuals referred for diagnostic sequencing for hypertrophic cardiomyopat...

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Detalles Bibliográficos
Autores principales: McGurk, Kathryn A., Zhang, Xiaolei, Theotokis, Pantazis, Thomson, Kate, Harper, Andrew, Buchan, Rachel J., Mazaika, Erica, Ormondroyd, Elizabeth, Wright, William T., Macaya, Daniela, Pua, Chee Jian, Funke, Birgit, MacArthur, Daniel G., Prasad, Sanjay K., Cook, Stuart A., Allouba, Mona, Aguib, Yasmine, Yacoub, Magdi H., O'Regan, Declan P., Barton, Paul J.R., Watkins, Hugh, Bottolo, Leonardo, Ware, James S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502871/
https://www.ncbi.nlm.nih.gov/pubmed/37652022
http://dx.doi.org/10.1016/j.ajhg.2023.08.003

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