Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_assertion description "[Germline gain-of-function mutations in RAF1 cause Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_assertion evidence source_evidence_curated NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_assertion SIO_000772 17603482 NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_assertion wasDerivedFrom ctd_human-20130708 NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_assertion wasGeneratedBy ECO_0000218 NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP21176.RAhcuefXaibpI1k69yQBKiKl-cbOQ6nqs-mmG1m_AIs_Q130_provenance.