Basic science methods for the characterization of variants of uncertain significance in hypertrophic cardiomyopathy

With the advent of next-generation whole genome sequencing, many variants of uncertain significance (VUS) have been identified in individuals suffering from inheritable hypertrophic cardiomyopathy (HCM). Unfortunately, this classification of a genetic variant results in ambiguity in interpretation,...

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Detalles Bibliográficos
Autores principales: Doh, Chang Yoon, Kampourakis, Thomas, Campbell, Kenneth S., Stelzer, Julian E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432852/
https://www.ncbi.nlm.nih.gov/pubmed/37600050
http://dx.doi.org/10.3389/fcvm.2023.1238515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432852/
https://www.ncbi.nlm.nih.gov/pubmed/37600050
http://dx.doi.org/10.3389/fcvm.2023.1238515

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