http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_head http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion http://identifiers.org/ncbigene/450095 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#DGN322b47456216f386d95c7107a543689a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/450095 http://rdf.disgenet.org/gene-disease-association.ttl#DGN322b47456216f386d95c7107a543689a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007959 http://rdf.disgenet.org/gene-disease-association.ttl#DGN322b47456216f386d95c7107a543689a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion http://purl.org/dc/terms/description [The patient with normal vocal cord and pulmonary function had a less severe clinical course.This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_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#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18812441 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_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#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 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#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/dc/terms/created 2014-10-02T12:36:53+02:00 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY 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