在 WHIM 综合征中扩展 CXCR4 变异景观 : 整合临床和功能数据用于变异解释。
关键词: CXCR4 WHIM syndrome congenital neutropenia functional assays genetic testing primary immunodeficiency disease
Mesh : Receptors, CXCR4 / genetics Humans Warts / genetics diagnosis Primary Immunodeficiency Diseases / genetics diagnosis Mutation Genetic Association Studies Genetic Predisposition to Disease Immunologic Deficiency Syndromes / genetics diagnosis
来 源:
DOI:10.3389/fimmu.2024.1411141
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