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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.I117_Q119Fs

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GLA

NM_000169.3:p.I117_Q119Fs

hg38:chrX:101403825 GGCGAA>T

Associated Papers

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Kobayashi M et al.

Journal of Human Genetics, 2019

30988410 (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."