Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E730Splc
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GAA

NM_000152.5:p.E730Splc

Associated Papers

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Gupta N et al.

The Journal of Pediatrics, 2020

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Bali DS et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

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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."