Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G361del1
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GLA

NM_000169.3:p.G361del1

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

Clinical features and enzyme replacement therapy in 10 children with Fabry disease.

Li Q et al.

Frontiers in Pediatrics, 2023

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

Goicoechea M et al.

Nefrologia, 2021

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

Goicoechea M et al.

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."