Varaico: Literature-Extracted Genetic Variants

Gene:FDX2
Variant:p.M1L
Back to variants list

FDX2

NM_001397406.1:p.M1L

Associated Papers

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease.

Doni D et al.

Cell Death & Disease, 2025

Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.

Grifagni D et al.

Protein Science : a Publication of the Protein Society, 2024

Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.

Camponeschi F et al.

Biomolecules, 2022

Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.

Zhang W et al.

Biophysics Reports, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."