Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.V281A
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GLA

NM_000169.3:p.V281A

Associated Papers

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP et al.

The New England Journal of Medicine, 2016

27509102 (PubMed )
Supplement: nejmoa1510198_protocol.pdf
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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."