Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.D110V
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NDUFS2

NM_001377299.1:p.D110V

Associated Papers

Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.

Barshad G et al.

Scientific Reports, 2019

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB et al.

Journal of Medical Genetics, 2012

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