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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.C223F

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GLA

NM_000169.3:p.C223F

hg38:chrX:101398918 C>A

Associated Papers

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

30386727 (PubMed )

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

2545800 (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."