http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#head http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#assertion http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#provenance http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#assertion http://rdf.disgenet.org/resource/gda/DGNad8e3931574b5451ee35fab7e02a28df http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2705 http://rdf.disgenet.org/resource/gda/DGNad8e3931574b5451ee35fab7e02a28df http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007959 http://rdf.disgenet.org/resource/gda/DGNad8e3931574b5451ee35fab7e02a28df http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#provenance http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#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/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#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/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8800924 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#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/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/dc/terms/created 2017-10-17T13:12:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP441932.RALLC-1FWSE59sMPSM7wlrpHoRjm9indqHDDYAkx_649A 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