Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Y118F
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FXN

NM_000144.5:p.Y118F

Associated Papers

Drug Repositioning in Friedreich Ataxia.

Rufini A et al.

Frontiers in Neuroscience, 2022

Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.

Gottesfeld JM

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2019

Src inhibitors modulate frataxin protein levels.

Cherubini F et al.

Human Molecular Genetics, 2015

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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."