Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P380L
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GLA

NM_000169.3:p.P380L

Associated Papers

Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.

Romani I et al.

Journal of the Neurological Sciences, 2024

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene.

Cianci V et al.

Metabolic Brain Disease, 2022

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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."