http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#head http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#assertion http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#provenance http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#assertion http://rdf.disgenet.org/resource/gda/DGN39d8fdbaa55979afbac7a2667765322b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6654 http://rdf.disgenet.org/resource/gda/DGN39d8fdbaa55979afbac7a2667765322b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0028326 http://rdf.disgenet.org/resource/gda/DGN39d8fdbaa55979afbac7a2667765322b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#provenance http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#assertion http://purl.org/dc/terms/description [After 2006, germline mutations in the KRAS, SOS1, and RAF1 genes were reported to cause Noonan syndrome (NS), in addition to the PTPN11 gene, and now we can find the etiology of disease in approximately 60-70% of NS cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#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/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19020799 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#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/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/dc/terms/created 2017-10-17T13:16:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP971535.RAUFyCIel0vS-wkKNlX8DhaSYpRbK-ejVNqaE9opYfF7Q 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