Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.S65Splc
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GLA

NM_000169.3:p.S65Splc

Associated Papers

Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Řeboun M et al.

American Journal of Medical Genetics. Part A, 2022

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Pan X et al.

Plos One, 2016

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

Dobrovolny R et al.

Journal of Molecular Medicine (berlin, Germany), 2005

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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."