http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#head http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#assertion http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#provenance http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#assertion http://rdf.disgenet.org/resource/gda/DGNe93132c0b14403428df8063f8954e04f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3798 http://rdf.disgenet.org/resource/gda/DGNe93132c0b14403428df8063f8954e04f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0034152 http://rdf.disgenet.org/resource/gda/DGNe93132c0b14403428df8063f8954e04f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#provenance http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#assertion http://purl.org/dc/terms/description [The identification of mutations in CMT2 broadens the phenotypic spectrum and underlines the importance of KIF5A mutations, which involve degeneration of both the central and peripheral nervous systems and should be tested in HSP and CMT2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#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/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25008398 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#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/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/dc/terms/created 2017-10-17T13:14:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP619200.RA7qIuXxAL2YElle4nljFNJC5hYHe2RHlMufRDVk0EckI 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