http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_head http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_provenance http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://identifiers.org/ncbigene/4359 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/resource/gda/DGN1b37bca35bf972fa30117bbab34e3999 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4359 http://rdf.disgenet.org/resource/gda/DGN1b37bca35bf972fa30117bbab34e3999 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007959 http://rdf.disgenet.org/resource/gda/DGN1b37bca35bf972fa30117bbab34e3999 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_provenance http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://purl.org/dc/terms/description [ This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_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/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15050444 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://purl.org/pav/importedOn 2015-02-21 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/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/dc/terms/created 2015-08-25T14:38:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP68207.RAvUdWVlnTLqmt9HnzRC2rhokLlQSXKKX9WhYTPGsagcw 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