http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_head http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_assertion http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_assertion http://identifiers.org/ncbigene/5827 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/C0270911 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/DGN51e2c80dfd816137febad6a7b74d8cd7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5827 http://rdf.disgenet.org/resource/gda/DGN51e2c80dfd816137febad6a7b74d8cd7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270911 http://rdf.disgenet.org/resource/gda/DGN51e2c80dfd816137febad6a7b74d8cd7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_assertion http://purl.org/dc/terms/description [Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protein PMP22, or from point mutations in this gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_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/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8615087 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_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/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/dc/terms/created 2016-05-13T12:51:57+02:00 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1348284.RAVEhuqR9oNR2O2LmLQVdKmh2zd9orq0GiNOGMYmt4veY 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