Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.H568Q
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GAA

NM_000152.5:p.H568Q

Associated Papers

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Balendran-Braun S et al.

Human Mutation, 2024

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E et al.

Neuromuscular Disorders : Nmd, 2015

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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."