Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.S529delins
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GAA

NM_000152.5:p.S529delins

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

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Niño MY et al.

Human Mutation, 2019

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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."