Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P40A
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GLA

NM_000169.3:p.P40A

Associated Papers

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 › Non-Classic

Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance.

Koskenvuo JW et al.

Clinical Physiology and Functional Imaging, 2009

Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.

Koskenvuo JW et al.

Journal of Inherited Metabolic Disease, 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."