Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD6
Variant:p.R29_L30Splc
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CHCHD6

NM_032343.3:p.R29_L30Splc

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-supp1.xlsx › Sheet1
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