Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E66E
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GLA

NM_000169.3:p.E66E

Associated Papers

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

Lee BH et al.

Journal of Human Genetics, 2010

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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."