Varaico: Literature-Extracted Genetic Variants

Gene:RARS1
Variant:p.R512Q
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RARS1

NM_002887.4:p.R512Q

Associated Papers

Overview of genetic variants in a cohort of Iranian patients with leukodystrophy.

Fathi M et al.

Scientific Reports, 2025

RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.

Biglari S et al.

Molecular Genetics & Genomic Medicine, 2024

RARS1-related developmental and epileptic encephalopathy.

Wan L et al.

Epilepsia Open, 2023

Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.

Li G et al.

Science China. Life Sciences, 2021

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI et al.

Annals of Clinical and Translational Neurology, 2020

Mutations in RARS cause hypomyelination.

Wolf NI et al.

Annals of Neurology, 2014

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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."