Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.L190P
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FXN

NM_000144.5:p.L190P

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

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA et al.

Annals of Neurology, 2016

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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."