Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Q663*
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GAA

NM_000152.5:p.Q663*

Associated Papers

Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.

Cheah FC et al.

International Journal of Neonatal Screening, 2025

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

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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."