Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_assertion description "[We screened the entire CREB-binding protein gene (CBP) for mutations in patients with RSTS by using methods that find point mutations and larger rearrangements.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_assertion evidence source_evidence_curated NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_assertion SIO_000772 15706485 NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_assertion wasDerivedFrom uniprot-20130724 NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_assertion wasGeneratedBy ECO_0000218 NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1540.RAzjyx4j_dqZkdCetSeSnGSAcIUdy05qUqxTSZTZDELmA130_provenance.