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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS2

Variant:p.A430V

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NDUFS2

NM_001377299.1:p.A430V

hg38:chr1:161213725 C>T

Associated Papers

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA et al.

Brain : a Journal of Neurology, 2010

20819849 (PubMed )

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