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.
[doi:10.25345/C5TQ5RQ8G]
[dataset license: CC0 1.0 Universal (CC0 1.0)]
Keywords: Congenital heart defect, ERBB2, hypoplastic left heart syndrome, human induced pluripotent stem cells, zebrafish, single-cell RNA sequencing, Interactomics
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Markku Varjosalo, University of Helsinki, Finland |
Submitting User: | ichowdhu |
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Owner | Reanalyses | |
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