Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy

Background: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM....

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Detalhes bibliográficos
Publicado no:Diagnostics (Basel)
Main Authors: Micheu, Miruna Mihaela, Popa-Fotea, Nicoleta-Monica, Oprescu, Nicoleta, Bogdan, Stefan, Dan, Monica, Deaconu, Alexandru, Dorobantu, Lucian, Gheorghe-Fronea, Oana, Greavu, Maria, Iorgulescu, Corneliu, Scafa-Udriste, Alexandru, Ticulescu, Razvan, Vatasescu, Radu Gabriel, Dorobanțu, Maria
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7762332/
https://ncbi.nlm.nih.gov/pubmed/33297573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10121061
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