Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D109G
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GLA

NM_000169.3:p.D109G

Associated Papers

Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.

Jaurretche S et al.

Global Health, Epidemiology and Genomics, 2024

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

Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.

Capuano I et al.

Journal of Nephrology, 2020

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

Frabasil J et al.

Jimd Reports, 2019

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

Prevalence of Fabry's disease within hemodialysis patients in Spain.

Herrera J et al.

Clinical Nephrology, 2014

Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.

Jaurretche S et al.

Nefrologia, 0

Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Jaurretche SPA et al.

Indian Journal of Nephrology, 0

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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."