Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G274V
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GLA

NM_000169.3:p.G274V

Associated Papers

A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report.

Bae EH et al.

Annals of Palliative 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 › Unknown
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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."