Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion description "[A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion evidence source_evidence_curated NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion SIO_000772 9621520 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion wasDerivedFrom uniprot-20130724 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion wasGeneratedBy ECO_0000218 NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance.