Varaico: Literature-Extracted Genetic Variants

Gene:MFSD12
Variant:p.S232insFs
Back to variants list

MFSD12

NM_174983.5:p.S232insFs

Associated Papers

MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.

Bondue T et al.

American Journal of Physiology. Renal Physiology, 2024

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."