http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#head http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#assertion http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#provenance http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#assertion http://rdf.disgenet.org/resource/gda/DGN68a86cf9dbe427b16b59d987687636bf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10058 http://rdf.disgenet.org/resource/gda/DGN68a86cf9dbe427b16b59d987687636bf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0239849 http://rdf.disgenet.org/resource/gda/DGN68a86cf9dbe427b16b59d987687636bf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#provenance http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#assertion http://purl.org/dc/terms/description [Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin (pseudoxanthoma elasticum and harlequin ichthyosis, respectively), attesting to the spectrum of ABC gene mutations in human diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#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/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15996518 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#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/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/dc/terms/created 2017-10-17T13:17:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1205172.RAiAP7rn9JOo2sSSBmn0IG8Y3fs9zgzLacFrtIuMy5fdY 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