Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Y148*
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GAA

NM_000152.5:p.Y148*

Associated Papers

Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

Fu Liong H et al.

Case Reports in Neurological Medicine, 2014

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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."