http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_head http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_provenance http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://identifiers.org/ncbigene/24 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/C1855465 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/DGNa105eafdb184bf75db57f813eace639b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/24 http://rdf.disgenet.org/resource/gda/DGNa105eafdb184bf75db57f813eace639b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1855465 http://rdf.disgenet.org/resource/gda/DGNa105eafdb184bf75db57f813eace639b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_provenance http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://purl.org/dc/terms/description [Since thus far no STGD patients have been reported to carry two ABCR null alleles and taking into account that the RP phenotype is more severe than the STGD phenotype, we hypothesize that the intron 30 splice site mutation represents a true null allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9466990 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/dc/terms/created 2015-08-25T14:39:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc 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