Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E59V
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GLA

NM_000169.3:p.E59V

Associated Papers

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.

Zedde M et al.

Cells, 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

Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

Zedde M et al.

Biomedicines, 2022

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Sawada T et al.

Diagnostics (basel, Switzerland), 2021

Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.

Gago MF et al.

Journal of Parkinson's Disease, 2020

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey.

Yalın SF et al.

Nephron, 2019

Parkinson's disease prevalence in Fabry disease: A survey study.

Wise AH et al.

Molecular Genetics and Metabolism Reports, 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."