http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#head
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#assertion
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#provenance
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#assertion
http://rdf.disgenet.org/resource/gda/DGN90068a3ca13adc304592dbd77ede55bf
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1311
http://rdf.disgenet.org/resource/gda/DGN90068a3ca13adc304592dbd77ede55bf
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0410538
http://rdf.disgenet.org/resource/gda/DGN90068a3ca13adc304592dbd77ede55bf
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#provenance
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#assertion
http://purl.org/dc/terms/description
[The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is somewhat atypical, as it predicts an amino acid change within the carboxyl-terminal region of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#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/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11746045
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#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/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/dc/terms/created
2017-10-17T13:11:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP231668.RA85Nt3oSG6f0FHEJ45RtDxSj1hp6GmesGw_oaCP23OcM
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