Varaico: Literature-Extracted Genetic Variants

Gene:NFS1
Variant:p.G137V
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NFS1

NM_021100.5:p.G137V

Associated Papers

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

Gentili HG et al.

The Biochemical Journal, 2023

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.

Puglisi R

Biomedicines, 2022

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Dong YN et al.

Human Molecular Genetics, 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."