Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E389delFs
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GAA

NM_000152.5:p.E389delFs

Associated Papers

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

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M et al.

Human Mutation, 2008

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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."