Varaico: Literature-Extracted Genetic Variants

Gene:TIMM50
Variant:p.R114W
Back to variants list

TIMM50

NM_001001563.5:p.R114W

Associated Papers

Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

Jain S et al.

Genes, 2024

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.

Crameri JJ et al.

Molecular and Cellular Biology, 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."