http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_head
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_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/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/DGN28d166c55b5399114352388ceccc5450
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5376
http://rdf.disgenet.org/resource/gda/DGN28d166c55b5399114352388ceccc5450
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0270911
http://rdf.disgenet.org/resource/gda/DGN28d166c55b5399114352388ceccc5450
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_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/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_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/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8615087
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_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/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/dc/terms/created
2016-05-13T12:51:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1348289.RA8OYcKQfkkXIi-P3NH5yTVlxqctfgURPUvgA-0Nqd1jQ
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