Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.S401*
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GLA

NM_000169.3:p.S401*

Associated Papers

Pathologic substrate of gastropathy in Anderson-Fabry disease.

Di Toro A et al.

Orphanet Journal of Rare Diseases, 2020

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

Favalli V et al.

Journal of the American College of Cardiology, 2016

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

Shabbeer J et al.

Molecular Genetics and Metabolism, 2002

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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."