Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.F383L
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GLA

NM_000169.3:p.F383L

Associated Papers

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Hwu WL et al.

Human Mutation, 2009

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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."