Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q111*
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GLA

NM_000169.3:p.Q111*

Associated Papers

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

The prevalence of Fabry disease in a Turkish population with chronic kidney patients.

Tomar ÖK et al.

International Urology and Nephrology, 2023

Cognitive and psychological functioning in Fabry disease.

Sigmundsdottir L et al.

Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists, 2014

Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.

Boyd AC et al.

Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography, 2013

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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."