Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y216*
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GLA

NM_000169.3:p.Y216*

Associated Papers

Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.

Laffer B et al.

Frontiers in Immunology, 2024

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L et al.

Molecular Genetics & Genomic Medicine, 2022

Circulating microRNAs in Fabry Disease.

Xiao K et al.

Scientific Reports, 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."