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
J Clin Immunol. 2024 Aug 5;44(8):170. doi: 10.1007/s10875-024-01774-x. ABSTRACT Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease …