Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.F373S
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NDUFV1

NM_007103.4:p.F373S

Associated Papers

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Epifane-de-Assunção MC et al.

Molecular Neurobiology, 2025

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

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.

Zanette V et al.

Genetics and Molecular Biology, 2021

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Srivastava A et al.

European Journal of Human Genetics : Ejhg, 2018

Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience.

Cornelius LP et al.

Annals of Indian Academy of Neurology, 0

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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."