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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IARS2

Variant:p.R697S

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IARS2

NM_018060.4:p.R697S

hg38:chr1:220137957 C>A

Associated Papers

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.

Dong Q et al.

Orphanet Journal of Rare Diseases, 2024

39169373 (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."