http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_head http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://identifiers.org/ncbigene/3145 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/C0162565 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/DGN09c0dd2f7ad113858b7a7361b93bd4e7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3145 http://rdf.disgenet.org/resource/gda/DGN09c0dd2f7ad113858b7a7361b93bd4e7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162565 http://rdf.disgenet.org/resource/gda/DGN09c0dd2f7ad113858b7a7361b93bd4e7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://purl.org/dc/terms/description [The PBGD mutation analysis was found to have full specificity and sensitivity and can be used as the sole diagnostic method in the family complex studied, representing the major AIP mutation in Sweden.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7891051 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/dc/terms/created 2016-05-13T12:51:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1325182.RAmbrkVPoKtVtLdlR68dr37oOK_2SHY2jx-yjEt2UeEW8 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0