Varaico: Literature-Extracted Genetic Variants

Gene:RARS1
Variant:p.R542Splc
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RARS1

NM_002887.4:p.R542Splc

Associated Papers

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

37186453 (PubMed )
Supplement: EPI4-8-867-s001.docx

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI et al.

Annals of Clinical and Translational Neurology, 2020

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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."