Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD3
Variant:p.K175Splc
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CHCHD3

NM_017812.4:p.K175Splc

Associated Papers

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.

Birker K et al.

Elife, 2023

37404133 (PubMed )
Supplement: elife-83385-supp3.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."