Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G615G
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GAA

NM_000152.5:p.G615G

Associated Papers

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.

Huang JY et al.

Scientific Reports, 2020

Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

Er TK et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.

Teng YT et al.

Chang Gung Medical Journal, 2004

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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."