http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#head
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#assertion
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#provenance
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#assertion
http://rdf.disgenet.org/resource/gda/DGNec881cb826eb427108b5f87645ca6625
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3265
http://rdf.disgenet.org/resource/gda/DGNec881cb826eb427108b5f87645ca6625
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027962
http://rdf.disgenet.org/resource/gda/DGNec881cb826eb427108b5f87645ca6625
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#provenance
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#assertion
http://purl.org/dc/terms/description
[Costello syndrome (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, intellectual impairment, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and hypotrichosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#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/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25677562
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#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/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/dc/terms/created
2017-10-17T13:13:28+02:00
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP517890.RADGOjUh_TdLm5vs_Pp-MWvmwRpN5DmkSMDJFOopbmlg8
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