http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_head http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_provenance http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion http://identifiers.org/ncbigene/5827 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/C0442874 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/DGNa61f4a06e82e3cc477927521e6db51d2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5827 http://rdf.disgenet.org/resource/gda/DGNa61f4a06e82e3cc477927521e6db51d2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0442874 http://rdf.disgenet.org/resource/gda/DGNa61f4a06e82e3cc477927521e6db51d2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_provenance http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion http://purl.org/dc/terms/description [It is likely that the gene encoding the peripheral myelin protein PMP22 is at least one of the genes involved since the PMP22 gene maps within the CMT1A duplication (or HNPP deletion), and point mutations within it have been shown to cause a CMT phenotype in humans and comparable neuropathies in rodents (trembler and tremblerJ).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_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/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7515304 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_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/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/dc/terms/created 2016-05-13T12:51:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k 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