Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- befree-20150227 importedOn "2015-02-27" NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_assertion wasGeneratedBy ECO_0000203 NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_assertion wasDerivedFrom befree-20150227 NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_assertion SIO_000772 22654670 NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_assertion evidence source_evidence_literature NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.
- NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_assertion description "[Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP358318.RAXLcTeZMsyaiBFX8d3bEZd4cg__VV7yvagWEhvE-n66k130_provenance.