A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Huynh A, Gray PE, Sullivan A, Mackie J, Guerin A, Rao G, Pathmanandavel K, Mina ED, Hollway G, Hobbs M, Enthoven K, O'Young P, McManus S, Wainwright LH, Higgins M, Noon F, Wong M, Bastard P, Zhang Q, Casanova JL, Hsiao KC, Pinzon-Charry A, Ma CS, Tangye SG.
Huynh A, et al. Among authors: mcmanus s.
J Clin Immunol. 2024 Aug 5;44(8):170. doi: 10.1007/s10875-024-01774-x.
J Clin Immunol. 2024.
PMID: 39098944
Free PMC article.
Review.