Metadata | |
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ID | DOID:0081147 |
Name | common variable immunodeficiency 4 |
Definition | A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/19666484/ |
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