Articles with "gene phenotype" as a keyword



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Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

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Published in 2017 at "PLoS ONE"

DOI: 10.1371/journal.pone.0181842

Abstract: Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and… read more here.

Keywords: targeted next; phenotype associations; gene phenotype; gene ... See more keywords