Varaico: Literature-Extracted Genetic Variants

Gene:TIMM23
Variant:p.S43delFs
Back to variants list

TIMM23

NM_006327.4:p.S43delFs

Associated Papers

Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.

Heinemeyer T et al.

Dna and Cell Biology, 2019

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.

Aguirre LA et al.

American Journal of Medical Genetics. Part A, 2006

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."