http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#head http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#assertion http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#provenance http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#assertion http://rdf.disgenet.org/resource/gda/DGNd81dc501d2a75eb4c4d84b641b486b88 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57167 http://rdf.disgenet.org/resource/gda/DGNd81dc501d2a75eb4c4d84b641b486b88 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013261 http://rdf.disgenet.org/resource/gda/DGNd81dc501d2a75eb4c4d84b641b486b88 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#provenance http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#assertion http://purl.org/dc/terms/description [The detection and molecular characterization of four novel, overlapping microdeletions, all spanning SALL4 and flanking genes, in four unrelated cases with features of Okihiro syndrome and variable degrees of psychomotor delay, is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#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/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17623483 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/LHGDN http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/LHGDN http://purl.org/pav/importedOn 2009-03-31 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/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/dc/terms/created 2017-10-17T13:18:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1347043.RA7pcN7LWCK2yZS7ACo_HhMBjIGZPFYCBjubx0ou_0JL0 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