Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.V217G
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NDUFS1

NM_001199981.2:p.V217G

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

Shamseldin HE et al.

Journal of Medical Genetics, 2012

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