http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#head http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#assertion http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#provenance http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#assertion http://rdf.disgenet.org/resource/gda/DGN21edea83408ac409bff038cf1f8884b5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5376 http://rdf.disgenet.org/resource/gda/DGN21edea83408ac409bff038cf1f8884b5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393814 http://rdf.disgenet.org/resource/gda/DGN21edea83408ac409bff038cf1f8884b5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#provenance http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#assertion http://purl.org/dc/terms/description [A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#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/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8800924 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#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/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/dc/terms/created 2017-10-17T13:15:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP835024.RAYUQX-Zj_KLF4uSAsbSjcpv6kz4zX9K5gSi-5PP4ZXn0 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