Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.M1K
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RARS2

NM_020320.5:p.M1K

Associated Papers

RARS1-related developmental and epileptic encephalopathy.

Wan L et al.

Epilepsia Open, 2023

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

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI et al.

Annals of Clinical and Translational Neurology, 2020

Acute infantile liver failure due to mutations in the TRMU gene.

Zeharia A et al.

American Journal of Human Genetics, 2009

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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."