Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K130E
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GLA

NM_000169.3:p.K130E

Associated Papers

Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.

Mignani R et al.

Orphanet Journal of Rare Diseases, 2024

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

Monda E et al.

Circulation. Genomic and Precision Medicine, 2023

38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf

Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.

Gambardella J et al.

Iscience, 2023

Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.

Citro R et al.

Frontiers in Cardiovascular Medicine, 2022

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients.

Prota C et al.

Journal of Cardiovascular Medicine (hagerstown, Md.), 2021

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

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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."