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- source_evidence_literature type ECO_0000212 NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_assertion description "[Here, we show that mutations in the signalling and transcriptional regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in non-syndromic autosomal-dominant human pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_assertion evidence source_evidence_literature NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_assertion SIO_000772 16025100 NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_assertion wasDerivedFrom befree-20150227 NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_assertion wasGeneratedBy ECO_0000203 NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP595650.RADM64Y_uNhZEpACCKsILWxRMvoEsePtzEsMkeGEL9bY0130_provenance.