Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G643G
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GAA

NM_000152.5:p.G643G

Associated Papers

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.

Kan SH et al.

Scientific Reports, 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."