http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_head
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_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/C0027888
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/DGN1b932a6dc4b9ef5855e9d19fcc681ef7
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5827
http://rdf.disgenet.org/resource/gda/DGN1b932a6dc4b9ef5855e9d19fcc681ef7
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027888
http://rdf.disgenet.org/resource/gda/DGN1b932a6dc4b9ef5855e9d19fcc681ef7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_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/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_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/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8615087
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_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/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/dc/terms/created
2016-05-13T12:51:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1348285.RAlY6Ie0aklRQkZtOrq4XWwDtjz5so3HnpPd1ZfyefH6s
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