Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y365delFs
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GLA

NM_000169.3:p.Y365delFs

Associated Papers

Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.

Lee TH et al.

European Journal of Neurology, 2019

30103270 (PubMed )
Supplement: ENE-26-553-s001.docx

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA et al.

Plos One, 2015

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

Lee SH et al.

Molecular Genetics and Metabolism, 2014

Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients.

Barris-Oliveira AC et al.

Clinical Biochemistry, 2012

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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."