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Clinical Relevance of Loss-of-function Mutations of NEMO/IKBKG

Jin Wang, Kexin Shen, Hongxia Lou, Lina Zhou, Yunfei An,Xiaodong Zhao, Yuan Ding

Genes & Diseases(2025)

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Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID),Immunodeficiency (ID),Incontinentia pigmenti (IP),Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma (IKBKG),NEMO deleted exon 5 autoinflammatory syndrome (NDAS),Nuclear factor-κB (NF-κB) essential modulator (NEMO)
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