Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D33Y
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GLA

NM_000169.3:p.D33Y

Associated Papers

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Simoncini C et al.

Journal of Neurology, 2020

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Hossain MA et al.

Molecular Genetics and Metabolism Reports, 2019

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

Kobayashi M et al.

Journal of Human Genetics, 2019

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

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."