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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.I517_D518Splc

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GAA

NM_000152.5:p.I517_D518Splc

hg38:chr17:80110938 C>T

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

33717985 (PubMed )

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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."