Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_assertion wasGeneratedBy ECO_0000203 NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_assertion wasDerivedFrom befree-20140225 NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_assertion SIO_000772 12649809 NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_assertion evidence source_evidence_literature NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_assertion description "[JAG1 mutations in AGS include gene deletions and protein truncating, splicing, and missense mutations, suggesting that haploinsufficiency is the mechanism of disease causation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.
- befree-20140225 importedOn "2014-02-25" NP190243.RAzKHEPCJWDx3J5KR53R5g4m_sv6_Y7mAOF_CVs_Od20g130_provenance.