Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.R40G
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NDUFV1

NM_007103.4:p.R40G

Associated Papers

Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female.

Kaler SG et al.

Molecular Genetics and Metabolism Reports, 2025

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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."