http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#head http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#assertion http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#provenance http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#assertion http://rdf.disgenet.org/resource/gda/DGNccf3116595558ab03c014fc4b2a8879b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2617 http://rdf.disgenet.org/resource/gda/DGNccf3116595558ab03c014fc4b2a8879b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1832274 http://rdf.disgenet.org/resource/gda/DGNccf3116595558ab03c014fc4b2a8879b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#provenance http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#assertion http://purl.org/dc/terms/description [These results indicate that the CMT2D phenotype is caused not by reduction of the canonical GlyRS activity and insufficiencies in protein synthesis, but instead by novel pathogenic roles for the mutant GlyRS that specifically affect peripheral neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#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/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16982418 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#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/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/dc/terms/created 2017-10-17T13:12:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP429135.RAjTQLQrsxEmWBs9TpGYMApYZonuJ2IC4oO7q1sKeks9Q 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