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
西波利尼西亚一例 IFNAR1 缺乏症病例确定了 DOCK8 中常见的典型剪接位点变异：在代表性不足的祖先中验证意义不明的变异的重要性
期刊:Journal of Clinical Immunology
影响因子:7.2
doi:10.1007/s10875-024-01774-x
Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Geetha Rao, Karrnan Pathmanandavel, Erika Della Mina, Georgina Hollway, Matthew Hobbs, Karen Enthoven, Patrick O'Young, Sam McManus, Luke H Wainwright, Megan Higgins, Fallon Noon, Melanie Wong, Paul Bastard, Qian Zhang, Jean-Lau
