http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_head http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://identifiers.org/ncbigene/3315 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/C0007959 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/gene-disease-association.ttl#DGNad2d3f84afa760297abd91a076deae36 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3315 http://rdf.disgenet.org/gene-disease-association.ttl#DGNad2d3f84afa760297abd91a076deae36 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007959 http://rdf.disgenet.org/gene-disease-association.ttl#DGNad2d3f84afa760297abd91a076deae36 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://purl.org/dc/terms/description [ To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16215937 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/dc/terms/created 2014-10-02T12:32:27+02:00 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP57444.RAHaxiDSOo-w4OYFKAl_LpsNYlRdqZpwIdGVFw3f75iQU http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0