Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G528delFs
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GAA

NM_000152.5:p.G528delFs

Associated Papers

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Park KS

Children (basel, Switzerland), 2021

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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."