Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_assertion description "[CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_assertion evidence source_evidence_curated NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_assertion SIO_000772 21158681 NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_assertion wasDerivedFrom uniprot-2016 NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_assertion wasGeneratedBy ECO_0000218 NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6464.RAClbV-hhr7Y073ISWTpJBzx0IWgZ-brDlqTJq0yPBhso130_provenance.