Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.A430A
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NDUFS2

NM_001377299.1:p.A430A

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

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

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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."