Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.S83L
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NDUFV1

NM_007103.4:p.S83L

Associated Papers

Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.

Haddad S et al.

Oxford Medical Case Reports, 2025

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