Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y123_V124Splc
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GLA

NM_000169.3:p.Y123_V124Splc

Associated Papers

Transapical beating-heart septal myectomy for Fabry cardiomyopathy with left ventricular outflow tract obstruction: a retrospective case series.

Tian J et al.

Quantitative Imaging in Medicine and Surgery, 2025

Case Report: A Spinal Ischemic Lesion in a 24-Year-Old Patient With Fabry Disease.

Krämer J et al.

Frontiers in Immunology, 2020

Circulating microRNAs in Fabry Disease.

Xiao K et al.

Scientific Reports, 2019

Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.

Weidemann F et al.

Molecular Genetics and Metabolism, 2019

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Lenders M et al.

Orphanet Journal of Rare Diseases, 2016

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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."