Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K213_P214Splc
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GLA

NM_000169.3:p.K213_P214Splc

Associated Papers

Genetic and epigenetic architectures of stroke: Insights from GWAS to precision medicine.

Shehjar F et al.

Neurochemistry International, 2025

c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect.

Zhang P et al.

Gene, 2025

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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."