Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E176E
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GAA

NM_000152.5:p.E176E

Associated Papers

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Kishnani PS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31086307 (PubMed )
Supplement: 41436_2019_527_MOESM5_ESM.docx

Premature pubarche in children with Pompe disease.

Tan QK et al.

The Journal of Pediatrics, 2015

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