Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K240*
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GLA

NM_000169.3:p.K240*

Associated Papers

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

Kaneski CR et al.

Journal of Lipid Research, 2010

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

Askari H et al.

Virchows Archiv : an International Journal of Pathology, 2007

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

Branton MH et al.

Medicine, 2002

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM et al.

Clinical Genetics, 2001

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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."