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The Human Phenotype Ontology in 2024: phenotypes around the world
Download from doi.orgImpaired respiratory burst contributes to infections in PKCδ-deficient patients
UploadThe cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity
UploadActivated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
Download from rupress.orgCD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis
UploadGermline-activating mutations in PIK3CD compromise B cell development and function
UploadIntestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
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