Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.R49fs
Back to variants list

MTFMT

NM_139242.4:p.R49fs

Associated Papers

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H et al.

Annals of Clinical and Translational Neurology, 2019

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

Haack TB et al.

Molecular Genetics and Metabolism, 2014

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."