http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_head
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://identifiers.org/ncbigene/5894
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/C0007194
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/resource/gda/DGNe42bd4deada57658ca27122c1e4164b4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5894
http://rdf.disgenet.org/resource/gda/DGNe42bd4deada57658ca27122c1e4164b4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0007194
http://rdf.disgenet.org/resource/gda/DGNe42bd4deada57658ca27122c1e4164b4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://purl.org/dc/terms/description
[We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17603482
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/ctd_human-20150221
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v3.0.0/void/ctd_human-20150221
http://purl.org/pav/importedOn
2015-02-21
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/dc/terms/created
2015-08-25T14:37:56+02:00
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP28111.RA5zbzW4uV55ravUqLSSxDnb4iQamSkkmpipGPKR5YmSc
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0