Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N298insFs
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GLA

NM_000169.3:p.N298insFs

Associated Papers

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.

Braun F et al.

The Journal of Clinical Investigation, 2023

37014703 (PubMed )
Supplement: jci-133-157782-s180.xlsx › Table_S1

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Najafian B et al.

Journal of the American Society of Nephrology : Jasn, 2020

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP et al.

Journal of Medical Genetics, 2015

25795794 (PubMed )
Supplement: jmedgenet-2014-102797-s1.pdf

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

Sirrs S et al.

Molecular Genetics and Metabolism, 2010

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Ashley GA et al.

Journal of Human 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."