Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

BACKGROUND: Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted H...

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Detalhes bibliográficos
Main Authors: Lopes, Luis R, Zekavati, Anna, Syrris, Petros, Hubank, Mike, Giambartolomei, Claudia, Dalageorgou, Chrysoula, Jenkins, Sharon, McKenna, William, Plagnol, Vincent, Elliott, Perry M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2013
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3607113/
https://ncbi.nlm.nih.gov/pubmed/23396983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101270
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