http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_head http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://identifiers.org/ncbigene/5376 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/DGNf8b2e7fba61c8ddad6dc9c52a6bef663 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5376 http://rdf.disgenet.org/resource/gda/DGNf8b2e7fba61c8ddad6dc9c52a6bef663 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007959 http://rdf.disgenet.org/resource/gda/DGNf8b2e7fba61c8ddad6dc9c52a6bef663 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_provenance http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://purl.org/dc/terms/description [Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-Tooth 1A (CMT1A) disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23243264 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/dc/terms/created 2016-05-13T12:49:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0