Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C52F
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GLA

NM_000169.3:p.C52F

Associated Papers

Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study.

Barretto CT et al.

Orphanet Journal of Rare Diseases, 2024

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

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Germain DP et al.

Molecular Genetics & Genomic Medicine, 2021

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

Capuano I et al.

Journal of Nephrology, 2020

Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.

Silva CA et al.

Nephron, 2016

Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.

Paz OTD et al.

Jornal Brasileiro De Nefrologia, 0

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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."