http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#head http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#assertion http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#provenance http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#assertion http://rdf.disgenet.org/resource/gda/DGN728ce9538812cd052dc05adf33210987 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5009 http://rdf.disgenet.org/resource/gda/DGN728ce9538812cd052dc05adf33210987 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0848332 http://rdf.disgenet.org/resource/gda/DGN728ce9538812cd052dc05adf33210987 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#provenance http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#assertion http://purl.org/dc/terms/description [In order to improve the efficiency of our screening for mutant genotypes, we focused on molecular domains of functional or structural importance in the OTC gene, namely the carbamyl phosphate binding domain (encoded by the third exon) and the MspI restriction sites (CCGG) of the coding sequence (located in exons 2 and 7 respectively), as they contain mutation hot spots (CpG doublets).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#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/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1353535 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#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/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/dc/terms/created 2017-10-17T13:15:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP778594.RAnH5KNGazV1Z6UaC_ngSnLGYbFKeduRCgVr_ZUvpHDHo 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