http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#head
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#assertion
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#provenance
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#assertion
http://rdf.disgenet.org/resource/gda/DGNdee1601a3ee0babbc43627e4b1b8d191
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5376
http://rdf.disgenet.org/resource/gda/DGNdee1601a3ee0babbc43627e4b1b8d191
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0007959
http://rdf.disgenet.org/resource/gda/DGNdee1601a3ee0babbc43627e4b1b8d191
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#provenance
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#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/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23243264
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/dc/terms/created
2017-10-17T13:15:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP834611.RAGSJX3x8yiOu9uPyyHg6XKS8JLqAm_9kfv-elklzc-NA
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0