Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y222D
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GLA

NM_000169.3:p.Y222D

Associated Papers

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

Simoncini C et al.

Journal of Neurology, 2020

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

Lukas J et al.

International Journal of Molecular Sciences, 2020

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

Duro G et al.

International Journal of Molecular Sciences, 2018

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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."