Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E215K
Back to variants list

GAA

NM_000152.5:p.E215K

Associated Papers

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Yue D et al.

Jimd Reports, 2024

GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.

Gharesouran J et al.

Metabolic Brain Disease, 2020

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

De Gasperi R et al.

American Journal of Human Genetics, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."