Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion> ?p ?o ?g. }
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- NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion type Assertion NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_head.
- NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion description "[IL-12R?1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by biallelic mutations in IL12RB1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_provenance.
- NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion evidence source_evidence_literature NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_provenance.
- NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion SIO_000772 25467645 NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_provenance.
- NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion wasDerivedFrom befree-2016 NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_provenance.
- NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_assertion wasGeneratedBy ECO_0000203 NP1244182.RAKjhDWiMzC8bHs8CxCmK5fJQdaPCg_6PmHcruJDSnLZc130_provenance.