Varaico: Literature-Extracted Genetic Variants

Gene:TSFM
Variant:p.C315Y
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TSFM

NM_005726.6:p.C315Y

Associated Papers

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Traschütz A et al.

Parkinsonism & Related Disorders, 2019

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

Emperador S et al.

European Journal of Human Genetics : Ejhg, 2016

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Ahola S et al.

Neurology, 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."