http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_head http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_provenance http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_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/C0152027 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/DGN9cf7be27c79f6af68558ef7897f91cf1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23095 http://rdf.disgenet.org/resource/gda/DGN9cf7be27c79f6af68558ef7897f91cf1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0152027 http://rdf.disgenet.org/resource/gda/DGN9cf7be27c79f6af68558ef7897f91cf1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_provenance http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://purl.org/dc/terms/description [The clinical features of the CMT2A affecting the two families include similar levels of muscle weakness of the posterior and anterior tibial muscles, tendon reflexes preserved in upper extremities but reduced or absent in lower extremities, no enlargement of the peripheral nerves, and mild sensory disturbance in only 20% of affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9409358 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/dc/terms/created 2015-08-25T14:46:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP868126.RAFsRih-SjIOyDmk2B_B9Z3h_HY5C0mwidzR4hQW5BtkY http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0