Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_assertion description "[Differences were observed in the frequency of splice site and frame-shift mutations in the gene MYBPC3, which occurred more frequently (P< 0.02, P< 0.001, respectively) in HCM than in DCM, suggesting that cardiac myosin-binding protein C haploinsufficiency predisposes to hypertrophy rather than to dilation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_assertion evidence source_evidence_literature NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_assertion SIO_000772 21750094 NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_assertion wasDerivedFrom befree-20140225 NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_assertion wasGeneratedBy ECO_0000203 NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP484076.RAIanZtcFmaO-j1jP1jHMsjbGyjNqOcxfk5okFQ8-UGAg130_provenance.