http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#head http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#assertion http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#provenance http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#assertion http://rdf.disgenet.org/resource/gda/DGN9106efa581788edef4dc6519d68c0aaf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/368 http://rdf.disgenet.org/resource/gda/DGN9106efa581788edef4dc6519d68c0aaf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0033847 http://rdf.disgenet.org/resource/gda/DGN9106efa581788edef4dc6519d68c0aaf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#provenance http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#assertion http://purl.org/dc/terms/description [To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with affected individuals in two different generations and sequenced the entire coding region of ABCC6 in affected individuals, presumed carriers with a limited phenotype and unaffected family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#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/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16410789 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#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/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/dc/terms/created 2017-10-17T13:10:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP84782.RAUiW5pze92P5wThQxTpK-xtc4mwyJLks-qufR6Hbzyek 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