http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#head http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#assertion http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#provenance http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#assertion http://rdf.disgenet.org/resource/gda/DGN02bd4514cf0fcd57a5a1cdb170a31b0c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54332 http://rdf.disgenet.org/resource/gda/DGN02bd4514cf0fcd57a5a1cdb170a31b0c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0031117 http://rdf.disgenet.org/resource/gda/DGN02bd4514cf0fcd57a5a1cdb170a31b0c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#provenance http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#assertion http://purl.org/dc/terms/description [We examine the relationship between the genotype and the phenotype in the various forms of CMT disease related to GDAP1 mutations, and discuss the pathophysiological hypotheses that link peripheral neuropathies to mitochondrial dysfunction and GDAP1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#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/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20849849 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#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/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/dc/terms/created 2017-10-17T13:18:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1319521.RAocYKIwvf5DQ49dT110UjBhXX27X5ZUacdWIh5CVVACE 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