Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G346delFs
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GLA

NM_000169.3:p.G346delFs

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

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

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Sawada T et al.

Diagnostics (basel, Switzerland), 2021

Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Gaspar P et al.

Bmc Medical Genetics, 2010

Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.

Rodríguez-Marí A et al.

Human Mutation, 2003

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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."