Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P293L
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GLA

NM_000169.3:p.P293L

Associated Papers

An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Wang Z et al.

Npj Genomic Medicine, 2021

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Pan X et al.

Plos One, 2016

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

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

Sirrs S et al.

Molecular Genetics and Metabolism, 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."