Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R600G
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GAA

NM_000152.5:p.R600G

Associated Papers

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

Bergsma AJ et al.

European Journal of Human Genetics : Ejhg, 2021

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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."