Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.E349K
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NDUFS1

NM_005006.7:p.E349K

Associated Papers

Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme.

Alkhaldi HA et al.

Mitochondrion, 2023

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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."