Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y86delFs
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GLA

NM_000169.3:p.Y86delFs

Associated Papers

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease.

Limgala RP et al.

International Journal of Molecular Sciences, 2020

Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Goker-Alpan O et al.

Jimd Reports, 2016

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

Shabbeer J et al.

Human Mutation, 2005

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Ashton-Prolla P et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Topaloglu AK et al.

Molecular Medicine (cambridge, Mass.), 1999

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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."