http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_head http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_assertion http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_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/C0598589 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/DGN20aacf27efc851a9665683061b3e9e64 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5376 http://rdf.disgenet.org/resource/gda/DGN20aacf27efc851a9665683061b3e9e64 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0598589 http://rdf.disgenet.org/resource/gda/DGN20aacf27efc851a9665683061b3e9e64 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_assertion http://purl.org/dc/terms/description [We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_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/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25429913 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_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/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/dc/terms/created 2016-05-13T12:51:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1240743.RAiqDq4G6BxL4OnYYiYrDS16WGJmcxfd9UI4oC43roSFI 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