Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K213_P214Splc
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GLA

NM_000169.3:p.K213_P214Splc

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

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

Sawada T et al.

Diagnostics (basel, Switzerland), 2021

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

Frabasil J et al.

Jimd Reports, 2019

Fabry disease. A potential pitfall A family with a novel intronic mutation.

Cabrera G et al.

Molecular Genetics and Metabolism Reports, 2018

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Politei J et al.

Pediatric Nephrology (berlin, Germany), 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."