Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation
Article in Pediatric Allergy and Immunology (June 2024)
The most recent citing publications are shown below. View all 7 publications that cite this research output on Dimensions.
LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons
Article in Scientific Reports (May 2024)
Drosophila Bchs overexpression recapitulates human WDFY3 neurodevelopmental phenotypes with implications for glial cell involvement in altered head circumference
Preprint in bioRxiv (October 2023)