Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_assertion description "[Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_assertion evidence source_evidence_literature NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_assertion SIO_000772 23273570 NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_assertion wasDerivedFrom befree-20140225 NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_assertion wasGeneratedBy ECO_0000203 NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP713670.RAMcI3CctUCM2EAYaNJJ3yL_jpUhS5edLGr0BCEleAFF0130_provenance.