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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RARS2

Variant:p.Q12_L13Splc

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RARS2

NM_020320.5:p.Q12_L13Splc

hg38:chr6:87589921 C>A

Associated Papers

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

Walimbe AS et al.

Bmc Neurology, 2024

38438854 (PubMed )

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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."