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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.G359Splc

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GAA

NM_000152.5:p.G359Splc

hg38:chr17:80108487 A>G

Associated Papers

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ et al.

Human Mutation, 2019

31342611 (PubMed )

Supplement: HUMU-40-2146-s001.pdf

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