Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y123C
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GLA

NM_000169.3:p.Y123C

Associated Papers

Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.

Viall S et al.

Molecular Genetics and Metabolism Reports, 2025

Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

Rossi F et al.

High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 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."