http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_head http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://identifiers.org/ncbigene/5925 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/C0027831 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/gene-disease-association.ttl#DGNe33dc9734a21373ec8e73bc44cdee53b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5925 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe33dc9734a21373ec8e73bc44cdee53b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027831 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe33dc9734a21373ec8e73bc44cdee53b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://purl.org/dc/terms/description [We have analyzed the somatic mutations in 89 cutaneous neurofibromas derived from three unrelated NF1 patients with high tumor burden, by loss of heterozygosity (LOH) analysis of the NF1, TP53, RB1, and CDKN2A genes, by assessing microsatellite instability (MSI), by direct sequencing of the NF1, TP53, and several mismatch repair (MMR) genes and by multiplex ligation-dependent probe amplification of the NF1 and TP53 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20358387 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/dc/terms/created 2014-10-02T12:34:13+02:00 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP237111.RArusIx3hAsGqS85dF8vHLI4k0erjapjO7OpQ2SNzYXuo http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0