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

ABSTRACT: 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.

INSTRUMENT(S): timsTOF Pro

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Markku Varjosalo

PROVIDER: MSV000093153 | MassIVE | Thu Oct 19 08:29:00 BST 2023

REPOSITORIES: MassIVE

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