http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#head http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#assertion http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#provenance http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#assertion http://rdf.disgenet.org/resource/gda/DGNc4ad673ecc953bd392dfa49177c937cb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1717 http://rdf.disgenet.org/resource/gda/DGNc4ad673ecc953bd392dfa49177c937cb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714756 http://rdf.disgenet.org/resource/gda/DGNc4ad673ecc953bd392dfa49177c937cb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#provenance http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#assertion http://purl.org/dc/terms/description [SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, typical dysmorphic facial features, and variable degrees of developmental delay and intellectual disability (ID).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#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/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26969503 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#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/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/dc/terms/created 2017-10-17T13:12:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP287133.RACFGH7QxcuaeIcqJZk1OTTBqQnmXIGvPP34PE2DZBCZg 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