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Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing

BACKGROUND: The aim of this study was to identify the genetic causes of patients with hypertrophic cardiomyopathy (HCM) within a family. Most of the previous studies found point mutations as the genetic causes for HCM, whole‐gene deletion was rarely reported. METHODS: Although, clinical genetic test...

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Publicado en:Mol Genet Genomic Med
Autores principales: Ren, Ming‐Bao, Chai, Xiao‐Rui, Li, Lin, Wang, Xin, Yin, Chenghong
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057083/
https://ncbi.nlm.nih.gov/pubmed/31960626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1150
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