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Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype

Whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. Though most studies are performed in order to establish diagnoses in individuals with rare and clinically unrecognizable disorders, due to the constantly decreasing costs and commercial availabilit...

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Détails bibliographiques
Publié dans:Genet Res (Camb)
Auteurs principaux: REINSTEIN, EYAL, TZUR, SHAY, BORMANS, CONCETTA, BEHAR, DORON M.
Format: Artigo
Langue:Inglês
Publié: Cambridge University Press 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6865166/
https://ncbi.nlm.nih.gov/pubmed/27173948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672316000045
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