Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q327H
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GLA

NM_000169.3:p.Q327H

Associated Papers

Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.

Mursă A et al.

Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Savostyanov K et al.

Genes, 2023

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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."