Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.R40Q
Back to variants list

NDUFV1

NM_007103.4:p.R40Q

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

Subsequent Primary Hematologic Malignancies in a 21-Year-Old Retinoblastoma Survivor: Case Report Study.

Karimi E et al.

Cancer Reports (hoboken, N.j.), 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."