Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.W621G
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GAA

NM_000152.5:p.W621G

Associated Papers

Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.

Zhang Y et al.

World Journal of Clinical Cases, 2022

A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

Zhu D et al.

Frontiers in Pharmacology, 2022

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Dong R et al.

Frontiers in Genetics, 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."