Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N298insFs
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GLA

NM_000169.3:p.N298insFs

Associated Papers

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Ashton-Prolla P et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Topaloglu AK et al.

Molecular Medicine (cambridge, Mass.), 1999

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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."