http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#head http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#assertion http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#provenance http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#assertion http://rdf.disgenet.org/resource/gda/DGN6d838eb30c638547cd75a8bf2e1d9bca http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5727 http://rdf.disgenet.org/resource/gda/DGN6d838eb30c638547cd75a8bf2e1d9bca http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751291 http://rdf.disgenet.org/resource/gda/DGN6d838eb30c638547cd75a8bf2e1d9bca http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#provenance http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#assertion http://purl.org/dc/terms/description [The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#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/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17328283 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#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/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/dc/terms/created 2017-10-17T13:15:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP871874.RAHcXnYpsIM2oA2ejLE0JpHW2dXyAAfc7d1rx6hLh62hY 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