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- source_evidence_literature type ECO_0000212 NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_assertion description "[The pathogenesis of CRMCC is unknown, but its phenotype has key similarities with Revesz syndrome, which is caused by mutations in TINF2, a gene encoding a member of the telomere protecting shelterin complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_assertion evidence source_evidence_literature NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_assertion SIO_000772 22387016 NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_assertion wasDerivedFrom befree-2016 NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_assertion wasGeneratedBy ECO_0000203 NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.
- befree-2016 importedOn "2016-02-19" NP965201.RAC4XZm351NK2HZAouT0VL5wOQvThnsBnEJyAIEkeV5SA130_provenance.