Varaico: Literature-Extracted Genetic Variants

Gene:QARS1
Variant:p.R265H
Back to variants list

QARS1

NM_005051.3:p.R265H

Associated Papers

Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.

Xue H et al.

Scientific Reports, 2025

QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature.

Ahmad R et al.

Molecular Biology Reports, 2025

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

Mao B et al.

Frontiers in Neuroscience, 2023

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2022

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."