Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.A59V
Back to variants list

MTFMT

NM_139242.4:p.A59V

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

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.

La Piana R et al.

Neurogenetics, 2017

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."