Varaico: Literature-Extracted Genetic Variants

Gene:MTO1
Variant:p.R431W
Back to variants list

MTO1

NM_012123.4:p.R431W

Associated Papers

Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.

Moudian I et al.

Dna and Cell Biology, 2025

Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.

Zhou C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.

Zhang K et al.

Frontiers in Genetics, 2020

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

Nogueira C et al.

Mitochondrion, 2019

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."