Varaico: Literature-Extracted Genetic Variants

Gene:VDAC1
Variant:p.N269fs
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VDAC1

NM_003374.3:p.N269fs

Associated Papers

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.

Thompson K et al.

Hgg Advances, 2022

35321494 (PubMed )
Supplement: mmc2.pdf
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