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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GK

Variant:p.R204insFs

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GK

NM_001205019.2:p.R204insFs

hg38:chrX:30696099 A>AG

Associated Papers

Novel mutations in 13 probands with galactokinase deficiency.

Kolosha V et al.

Human Mutation, 2000

10790206 (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."