Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.H46L
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GLA

NM_000169.3:p.H46L

Associated Papers

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

Kobayashi M et al.

Journal of Human Genetics, 2019

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic

Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).

Tsuboi K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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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."