http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#head http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#provenance http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://rdf.disgenet.org/resource/gda/DGNaa82f91365513497f6c0ff4b0a39683b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/28954 http://rdf.disgenet.org/resource/gda/DGNaa82f91365513497f6c0ff4b0a39683b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0795864 http://rdf.disgenet.org/resource/gda/DGNaa82f91365513497f6c0ff4b0a39683b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#provenance http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://purl.org/dc/terms/description [Although Smith-Magenis syndrome involves a deletion of proximal 17p, some of the clinical features of this mosaic trisomy 17 patient, such as decreased REM sleep and increased tolerance to pain, are suggestive of phenotypic features observed in Smith-Magenis syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8557263 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/dc/terms/created 2017-10-17T13:18:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1291753.RAxs3ytdrqGpQiieIv7YwNnQAEHqrPF9w6hByyDYFMykk http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0