Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Y118*
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FXN

NM_000144.5:p.Y118*

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

Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.

Rao VK et al.

Case Reports in Neurological Medicine, 2018

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.

Saccà F et al.

Plos One, 2011

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Gellera C et al.

Neurogenetics, 2007

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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."