Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C94R
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GLA

NM_000169.3:p.C94R

Associated Papers

Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.

Borisch C et al.

Journal of Translational Medicine, 2024

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.

Li P et al.

Cells, 2024

Functional evaluation of a novel GLA causative mutation in Fabry disease.

Li P et al.

Molecular Genetics & Genomic Medicine, 2019

Monogenic causes of chronic kidney disease in adults.

Connaughton DM et al.

Kidney International, 2019

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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."