http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_head http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_assertion http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_assertion http://identifiers.org/ncbigene/5376 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/C0393814 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/DGN83472a8785ed7401f73ed93d0fae0b7c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5376 http://rdf.disgenet.org/resource/gda/DGN83472a8785ed7401f73ed93d0fae0b7c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393814 http://rdf.disgenet.org/resource/gda/DGN83472a8785ed7401f73ed93d0fae0b7c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_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/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_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/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7515304 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_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/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/dc/terms/created 2016-05-13T12:51:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1309830.RAPVaOlBb9Ffmij28BlMvsGkrMPf0qlLh_AhU4Ixc6VSE 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