Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E358_I359insFs
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GLA

NM_000169.3:p.E358_I359insFs

Associated Papers

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Liguori R et al.

Plos One, 2017

Early markers of Fabry disease revealed by proteomics.

Matafora V et al.

Molecular Biosystems, 2015

Fabry disease: perspectives of urinary proteomics.

Cuccurullo M et al.

Journal of Nephrology, 0

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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."