Article

ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

2023-11-21

Abstract excerpt

<h4>Background and aims</h4> Non-syndromic congenital heart defects (CHD) are occasionally familial and left ventricular out flow tract obstruction (LVOTO) defects are among the subtypes with the highest hereditability. The aim of this study was to evaluate the pathogenicity of a heterozygous ERBB2 variant R599C identified in three families with LVOTO defects. <h4>Methods</h4> Variant detection was done with exome...

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Literature Corpus work: e4f65707-79aa-55d3-94aa-c3a2334ca6a5
DOI: 10.1101/2023.11.17.23297969

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