Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.S202C
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FXN

NM_000144.5:p.S202C

Associated Papers

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.

Da Conceição LMA et al.

International Journal of Molecular Sciences, 2024

38891993 (PubMed )
Supplement: ijms-25-05796-s001.zip › Table_S1.pdf

CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.

Gentili HG et al.

The Biochemical Journal, 2023

A Combined Spectroscopic and In Silico Approach to Evaluate the Interaction of Human Frataxin with Mitochondrial Superoxide Dismutase.

Doni D et al.

Biomedicines, 2021

Mechanism of frataxin "bypass" in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia.

Das D et al.

The Journal of Biological Chemistry, 2019

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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."