Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.R363P
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GLA

NM_000169.3:p.R363P

Associated Papers

Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.

Cybulla M et al.

Journal of Clinical Medicine, 2022

36013057 (PubMed )
Supplement: jcm-11-04810-s001.zip › jcm-1818880-supplementary.pdf

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Germain DP et al.

Journal of Medical Genetics, 2020

32161151 (PubMed )
Supplement: jmedgenet-2019-106467supp001.pdf

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP et al.

The New England Journal of Medicine, 2016

27509102 (PubMed )
Supplement: nejmoa1510198_protocol.pdf

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).

Fogo AB et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

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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."