Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.L398insFs
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GAA

NM_000152.5:p.L398insFs

Associated Papers

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.

Domínguez-González C et al.

Neuromuscular Disorders : Nmd, 2026

BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.

Carrasco-Rozas A et al.

The American Journal of Pathology, 2022

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Figueroa-Bonaparte S et al.

Plos One, 2016

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

Gort L et al.

Molecular Genetics and Metabolism, 0

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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."