Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_assertion description "[A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_assertion evidence source_evidence_literature NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_assertion SIO_000772 25847113 NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_assertion wasDerivedFrom befree-2016 NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_assertion wasGeneratedBy ECO_0000203 NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.
- befree-2016 importedOn "2016-02-19" NP1276193.RAYqopGX2uctDxivm158eTsQVwmzgubQgy5gSH_EuXa10130_provenance.