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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. 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.
Moreover, a new and putatively deleterious canonical splice site variant in DOCK8 was also found in homozygosity (c.3234 + 2T > C). ...Despite in silico bioinformatic predictions, extensive in vitro and ex vivo analysis revealed the DOCK8 variant likely be neutra …
Moreover, a new and putatively deleterious canonical splice site variant in DOCK8 was also found in homozygosity (c.3234 + 2T …
Correction to: 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, E Gray P, Sullivan A, Mackie J, Guerin A, Rao G, Pathmanandavel K, Della Mina E, Hollway G, Hobbs M, Enthoven K, O'Young P, McManus S, H Wainwright L, Higgins M, Noon F, Wong M, Bastard P, Zhang Q, Casanova JL, Hsiao KC, Pinzon-Charry A, S Ma C, G Tangye S. Huynh A, et al. J Clin Immunol. 2024 Sep 19;45(1):11. doi: 10.1007/s10875-024-01801-x. J Clin Immunol. 2024. PMID: 39297999 Free PMC article. No abstract available.