Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Y575*
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GAA

NM_000152.5:p.Y575*

Associated Papers

Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Park KS

Molecular Genetics and Metabolism Reports, 2021

Screening for late-onset Pompe disease in Finland.

Palmio J et al.

Neuromuscular Disorders : Nmd, 2014

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.

Korpela MP et al.

Muscle & Nerve, 2009

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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."