Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y222delFs
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GLA

NM_000169.3:p.Y222delFs

Associated Papers

Downregulation of Mannose-6-Phosphate Receptors in Fabry Disease Cardiomyopathy: A Potential Target for Enzyme Therapy Enhancement.

Frustaci A et al.

Journal of Clinical Medicine, 2022

Divergent Impact of Enzyme Replacement Therapy on Human Cardiomyocytes and Enterocytes Affected by Fabry Disease: Correlation with Mannose-6-phosphate Receptor Expression.

Frustaci A et al.

Journal of Clinical Medicine, 2022

Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease.

Chimenti C et al.

Orphanet Journal of Rare Diseases, 2021

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

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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."