Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.E108K
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FXN

NM_000144.5:p.E108K

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

Insights on the conformational dynamics of human frataxin through modifications of loop-1.

Noguera ME et al.

Archives of Biochemistry and Biophysics, 2017

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

Schmucker S et al.

Plos One, 2011

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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."