Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q321L
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GLA

NM_000169.3:p.Q321L

Associated Papers

Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.

Boutin M et al.

Analytical Chemistry, 2014

24634980 (PubMed )
Supplement: ac404000d_si_001.pdf

A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients.

Manwaring V et al.

Analytical Chemistry, 2013

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

Kuipers R et al.

Human Mutation, 2010

20629180 (PubMed )
Supplement: supplement_1.pdf

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

Sirrs S et al.

Molecular Genetics and Metabolism, 2010

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Auray-Blais C et al.

Molecular Genetics and Metabolism, 2008

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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."