Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.T412fs
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GLA

NM_000169.3:p.T412fs

Associated Papers

Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.

Linares D et al.

Molecular Genetics and Metabolism, 2023

Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.

Frabasil J et al.

Jimd Reports, 2019

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA et al.

Plos One, 2015

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

Shabbeer J et al.

Human Genomics, 2006

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

Shabbeer J et al.

Human Mutation, 2005

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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."