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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS13D

Variant:p.E2947Q

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VPS13D

NM_015378.4:p.E2947Q

hg38:chr1:12343005 G>C

Associated Papers

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Kistol D et al.

International Journal of Molecular Sciences, 2023

36675121 (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."