Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.W287R
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GLA

NM_000169.3:p.W287R

Associated Papers

The Effect of Fabry Disease Therapy on Bone Mineral Density.

Aitken T et al.

Diseases (basel, Switzerland), 2024

38785757 (PubMed )
Supplement: diseases-12-00102-s001.zip › diseases-2921271-supplementary.pdf

Anderson-Fabry disease management: role of the cardiologist.

Pieroni M et al.

European Heart Journal, 2024

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

Savostyanov K et al.

Genes, 2023

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

Encarnação M et al.

International Journal of Molecular Sciences, 2020

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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."