Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.W226G
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GLA

NM_000169.3:p.W226G

Associated Papers

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.

Hwang S et al.

Medicine, 2022

Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.

Kim IY et al.

Kidney Research and Clinical Practice, 2021

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH et al.

Medicine, 2017

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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."