Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L417R
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GLA

NM_000169.3:p.L417R

Associated Papers

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Dutra-Clarke M et al.

Molecular Genetics and Metabolism Reports, 2021

Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.

Rickert V et al.

Journal of Internal Medicine, 2020

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 › Unknown
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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."