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- NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_assertion type Assertion NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_head.
- NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_assertion description "[These primary immunodeficiencies are caused by germline mutations in seven genes: ELA2, encoding a neutrophil elastase, and GFI1, encoding a regulator of ELA2 (mutations associated with severe congenital neutropenia); CXCR4, encoding a chemokine receptor (warts, hypogammaglobulinemia, infections and myelokathexis syndrome); LCRR8, encoding a key protein for B-cell development (agammaglobulinemia); IFNGR1, encoding the ligand-binding chain of the interferon-gamma receptor; STAT1, encoding the signal transducer and activator of transcription 1 downstream from interferon-gammaR1 (Mendelian susceptibility to mycobacterial diseases); and IKBA, encoding IkappaBalpha, the inhibitor alpha of NF-kappaB (anhidrotic ectodermal dysplasia with immunodeficiency).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_provenance.
- NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_assertion evidence source_evidence_literature NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_provenance.
- NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_assertion SIO_000772 15604887 NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_provenance.
- NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_assertion wasDerivedFrom befree-2016 NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_provenance.
- NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_assertion wasGeneratedBy ECO_0000203 NP473110.RA-YC-W6lcNw6v0hQfHE0HnpOCmqTnKeCeshc6eqVMWdM130_provenance.