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Article

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Journal of the American Heart Association - 6 Apr 2021

Puckelwartz Megan J, Pesce Lorenzo L, Dellefave-Castillo Lisa M, Wheeler Matthew T, Pottinger Tess D, Robinson Avery C, Kearns Samuel D, Gacita Anthony M, Schoppen Zachary J, Pan Wenyu, Kim Gene, Wilcox Jane E, Anderson Allen S, Ashley Euan A, Day Sharlene M, Cappola Thomas, Dorn Gerald W, McNally Elizabeth M

Abstract excerpt

Background Inherited cardiomyopathies display variable penetrance and expression, and a component of phenotypic variation is genetically determined. To evaluate the genetic contribution to this variable expression, we compared protein coding variation in the genomes of those with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Methods and Results Nonsynonymous single-nucleotide variants...

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Share to Cardiomyopathy, Dilated
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genomics

Share to Heart Ventricles

Share to Polymorphism, Single Nucleotide

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Share to Ventricular Function, Left

Source

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Identifiers

PMID: 33764162
DOI: 10.1161/JAHA.120.019944
PMCID: PMC8174318

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