Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.V124delFs
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GLA

NM_000169.3:p.V124delFs

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

Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nagata A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Sueoka H et al.

Plos One, 2015

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Nakano S et al.

Plos One, 2013

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

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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."