http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#head http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#assertion http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#provenance http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#assertion http://rdf.disgenet.org/resource/gda/DGN0e31b920a4ce1c6ef74b51b9cf6b157f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5092 http://rdf.disgenet.org/resource/gda/DGN0e31b920a4ce1c6ef74b51b9cf6b157f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029294 http://rdf.disgenet.org/resource/gda/DGN0e31b920a4ce1c6ef74b51b9cf6b157f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#provenance http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#assertion http://purl.org/dc/terms/description [This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#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/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20672375 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#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/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/dc/terms/created 2017-10-17T13:15:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP789998.RA32oM4wWoppgDVj3GzD9iiQAJxopVx-37urINl76alYc 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