http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#head http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#assertion http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#provenance http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#assertion http://rdf.disgenet.org/resource/gda/DGN023b5432b26f4d492015e7147b4872b5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5781 http://rdf.disgenet.org/resource/gda/DGN023b5432b26f4d492015e7147b4872b5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1956257 http://rdf.disgenet.org/resource/gda/DGN023b5432b26f4d492015e7147b4872b5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#provenance http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#assertion http://purl.org/dc/terms/description [Statistically significant differences in the presence of pulmonary stenosis (63.64% vs. 23.81%, P = 0.013897) and cryptorchidism (76.47% vs. 30%, P = 0.040224) were identified as the result of comparison of the prevalence of phenotypic features in patients with the phenotype of Noonan syndrome and mutation in the PTPN11 gene, with the prevalence of the same features in patients without PTPN11 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#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/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26607044 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#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/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/dc/terms/created 2017-10-17T13:15:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP886448.RAm5-CptuVfcgR1-SLmZdyt34OrO_EAfIlgCDz0trmbBo 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