Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.K104K
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NDUFV1

NM_007103.4:p.K104K

Associated Papers

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Hinttala R et al.

Journal of Molecular Medicine (berlin, Germany), 2005

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

Petruzzella V et al.

Human Molecular Genetics, 2001

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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."