http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#head http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#assertion http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#provenance http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#assertion http://rdf.disgenet.org/resource/gda/DGN2a2970abc43f2c9f00009f8edcc5c640 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3720 http://rdf.disgenet.org/resource/gda/DGN2a2970abc43f2c9f00009f8edcc5c640 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432072 http://rdf.disgenet.org/resource/gda/DGN2a2970abc43f2c9f00009f8edcc5c640 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#provenance http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#assertion http://purl.org/dc/terms/description [Patients with deletion of SRO I manifested variable degrees of cognitive impairment, gait disturbance and distinct, similar facial dysmorphic features (prominent supraorbital ridges, deep set eyes, dark infraorbital circles and midface hypoplasia) that might be ascribed to the haploinsufficiency of JARID2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#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/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23294540 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#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/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/dc/terms/created 2017-10-17T13:14:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP611092.RAwUU1bmBJTdR35BrE1fQ3auweok1nykGbBAJUHovp8rg 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