http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#head
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#assertion
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#provenance
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#assertion
http://rdf.disgenet.org/resource/gda/DGN8506816c5c17476f864357498b3a8b65
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3845
http://rdf.disgenet.org/resource/gda/DGN8506816c5c17476f864357498b3a8b65
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1275081
http://rdf.disgenet.org/resource/gda/DGN8506816c5c17476f864357498b3a8b65
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#provenance
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#assertion
http://purl.org/dc/terms/description
[Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#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/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22488932
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#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/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/dc/terms/created
2017-10-17T13:14:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP630079.RAnES8wFvtFXr_e8weD4eeRxlNyR03Bt0JLQCqpaDG5kk
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