Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D55G
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GLA

NM_000169.3:p.D55G

Associated Papers

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

Monda E et al.

Circulation. Genomic and Precision Medicine, 2023

38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages.

Martin C et al.

Journal of Nephrology, 2022

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

Frabasil J et al.

Jimd Reports, 2019

Brain MRI findings in children and adolescents with Fabry disease.

Marchesoni C et al.

Journal of the Neurological 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."