Article
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2014
Pugh Trevor J, Kelly Melissa A, Gowrisankar Sivakumar, Hynes Elizabeth, Seidman Michael A, Baxter Samantha M, Bowser Mark, Harrison Bryan, Aaron Daniel, Mahanta Lisa M, Lakdawala Neal K, McDermott Gregory, White Emily T, Rehm Heidi L, Lebo Matthew, Funke Birgit H
Abstract excerpt
PURPOSE: Dilated cardiomyopathy is characterized by substantial locus, allelic, and clinical heterogeneity that necessitates testing of many genes across clinically overlapping diseases. Few studies have sequenced sufficient individuals; thus, the contributions of individual genes and the pathogenic variant spectrum are still poorly defined. We analyzed 766 dilated cardiomyopathy patients tested over 5 years in...
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