Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_assertion description "[We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_assertion evidence source_evidence_literature NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_assertion SIO_000772 23315884 NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_assertion wasDerivedFrom befree-20140225 NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_assertion wasGeneratedBy ECO_0000203 NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.
- befree-20140225 importedOn "2014-02-25" NP662147.RAJ1Gw7nFOTGTMkRzZVE8rwDReRiZ6U124yYtcGMmgx5w130_provenance.