The pathogenicity of genetic variants previously associated with left ventricular non‐compaction

ConclusionsIn this article, we identified 9 ESP‐positive and 18 ExAC‐positive variants of 60 previously reported LVNC‐associated variants, suggesting that these variants are not necessarily the monogenic cause of LVNC. We report the results of the first study on the left ventricular non‐compaction associated gene and variants. We performed prediction analysis to estimate the pathogenicity of LVNC‐associated variants. Exome sequencing database was systematically searched for the LVNC‐ associated variants.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research