Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A73E
Back to variants list

GLA

NM_000169.3:p.A73E

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

Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.

Goicoechea M et al.

Nefrologia, 2021

Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Sawada T et al.

Molecular Genetics & Genomic Medicine, 2020

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Yoshida S et al.

Orphanet Journal of Rare Diseases, 2020

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

Azevedo O et al.

American Heart Journal, 2020

Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.

Capuano I et al.

Journal of Nephrology, 2020

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown

Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.

Nishino T et al.

Renal Failure, 2012

Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.

Goicoechea M et al.

Nefrologia, 0

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."