Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.H180N
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GAA

NM_000152.5:p.H180N

Associated Papers

Retrospective analysis of prenatal ultrasound of children with Pompe disease.

Li YL et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.

Su X et al.

European Journal of Medical Genetics, 2020

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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."