Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L429delFs
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GLA

NM_000169.3:p.L429delFs

Associated Papers

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Nampoothiri S et al.

Jimd Reports, 2020

Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Barbey F et al.

Clinical Genetics, 2019

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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."