Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Y123D
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FXN

NM_000144.5:p.Y123D

Associated Papers

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.

Monfort B et al.

Frontiers in Neuroscience, 2022

Characterization of human frataxin missense variants in cancer tissues.

Petrosino M et al.

Human Mutation, 2019

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA et al.

Annals of Neurology, 2016

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.

Heidari MM et al.

Iranian Journal of Child 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."