Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_assertion description "[Determining the complete exon-intron structure of JAG1 allowed detailed mutational analysis of DNA samples from non-deletion AGS patients, revealing three frame-shift mutations, two splice donor mutations and one mutation abolishing RNA expression from the altered allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_assertion evidence source_evidence_curated NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_assertion SIO_000772 9207787 NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_assertion wasDerivedFrom ctd_human-20130708 NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_assertion wasGeneratedBy ECO_0000218 NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP20609.RAY3MRPToPt0NjdyaRdkGZ0n87C8VpG_xytcPHjjsiDsY130_provenance.