http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_head
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_provenance
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://identifiers.org/ncbigene/2705
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/C0011195
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/DGNbe8878f29541289836ee4a9241e37503
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2705
http://rdf.disgenet.org/resource/gda/DGNbe8878f29541289836ee4a9241e37503
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0011195
http://rdf.disgenet.org/resource/gda/DGNbe8878f29541289836ee4a9241e37503
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_provenance
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://purl.org/dc/terms/description
[Point mutations in the coding region of the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) or connexin 32 (Cx32) have been reported in CMT patients, including CMT type 1 (CMT1), CMT type 2 (CMT2) and Déjérine-Sottas neuropathy (DS) patients, and only in the coding region of PMP22 in HNPP families lacking a deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9187667
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/dc/terms/created
2015-08-25T14:41:48+02:00
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP426055.RADamcB-7dkaEDor_5qa-LuiZRK0iOa4ME9hm8ckXzjak
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0