Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K213_P214Splc
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GLA

NM_000169.3:p.K213_P214Splc

Associated Papers

Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.

Faro DC et al.

Genes, 2025

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

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy.

Kim WS et al.

Journal of Korean Medical Science, 2019

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny D et al.

Journal of Medical Genetics, 2018

Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.

Terryn W et al.

International Journal of Cardiology, 2013

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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."