Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.S189P
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NDUFV1

NM_007103.4:p.S189P

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

NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.

Mahesan A et al.

Pediatric Neurology, 2024

The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.

Becker N et al.

Acta Neuropathologica Communications, 2022

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