Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R154_T155del0
Back to variants list

GAA

NM_000152.5:p.R154_T155del0

Associated Papers

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

De Groot AS et al.

Frontiers in Immunology, 2021

34220802 (PubMed )
Supplement: DataSheet_1.pdf

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M et al.

Molecular Genetics and Metabolism, 2017

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

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."