Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.W155*
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FXN

NM_000144.5:p.W155*

Associated Papers

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.

Fox NG et al.

Nature Communications, 2019

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

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

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

De Castro M et al.

Human Genetics, 2000

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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."