Varaico: Literature-Extracted Genetic Variants

Gene:RARS1
Variant:p.D2E
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RARS1

NM_002887.4:p.D2E

Associated Papers

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

Li G et al.

Science China. Life Sciences, 2021

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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."