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IDENTIFICATION OF A NOVEL OBSCURIN PROTEIN VARIANT IN NONISCHEMIC CARDIOMYOPATHY

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Obscurin belongs in the family of giant sarcomeric signaling proteins involved with signaling, regulation, and structural support of the cardiomyocyte. Variants of the obscurin gene may be responsible for inherited… Click to show full abstract

Obscurin belongs in the family of giant sarcomeric signaling proteins involved with signaling, regulation, and structural support of the cardiomyocyte. Variants of the obscurin gene may be responsible for inherited cardiomyopathies. A genetic predisposition was hypothesized to be responsible for

Keywords: protein variant; nonischemic cardiomyopathy; obscurin protein; novel obscurin; identification novel; variant nonischemic

Journal Title: Journal of the American College of Cardiology
Year Published: 2018

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