http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_head http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion http://identifiers.org/ncbigene/23095 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/DGN65611f8ceaba738b048430fac4f0e7b6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23095 http://rdf.disgenet.org/resource/gda/DGN65611f8ceaba738b048430fac4f0e7b6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0598589 http://rdf.disgenet.org/resource/gda/DGN65611f8ceaba738b048430fac4f0e7b6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_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/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_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/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25429913 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_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/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/dc/terms/created 2016-05-13T12:51:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1240742.RAwkGbLDe76LAgaMKoZWUtE2G8cCUFni3VtMZQKNKHhUo 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