Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A309delFs
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GLA

NM_000169.3:p.A309delFs

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

Yao F et al.

Human Genomics, 2024

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L et al.

Molecular Genetics & Genomic Medicine, 2022

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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."