Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.F367fs
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MTFMT

NM_139242.4:p.F367fs

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

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Martikainen MH et al.

Jama Neurology, 2016

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

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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."