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

GSE247858 Homo sapiens Expression profiling by high throughput sequencing 8 samples Submitted 2024/12/14 Platform GPL18573
Summary
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.
Published in
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
Ampuja M, Ericsson S, Paatero I et al. · HGG advances 2025 · PMID 40329538 · doi:10.1016/j.xhgg.2025.100446
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Also filed as BioProject PRJNA1040828 and SRA study SRP472186. Searching any of these in the dataset finder brings you back here.

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