Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.R30K
Back to variants list

GLA

NM_000169.3:p.R30K

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

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Reková P et al.

Journal of Clinical Medicine, 2021

Nationwide screening for Fabry disease in unselected stroke patients.

Tomek A et al.

Plos One, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."