http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_head http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_provenance http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://identifiers.org/ncbigene/5727 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0004779 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNce3073bd62c45c0b1b1ccd25a35d48a1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5727 http://rdf.disgenet.org/resource/gda/DGNce3073bd62c45c0b1b1ccd25a35d48a1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004779 http://rdf.disgenet.org/resource/gda/DGNce3073bd62c45c0b1b1ccd25a35d48a1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_provenance http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_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/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17328283 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/dc/terms/created 2016-05-13T12:46:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP596355.RAgsQBxG7oAdVuaUrXLW1k5v9TqFfvnuokDBIlWCKw1Os http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0