http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_head
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_assertion
http://identifiers.org/ncbigene/4359
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/DGNd89aa7bf70df09f508fbf4156f70e867
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4359
http://rdf.disgenet.org/resource/gda/DGNd89aa7bf70df09f508fbf4156f70e867
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0011195
http://rdf.disgenet.org/resource/gda/DGNd89aa7bf70df09f508fbf4156f70e867
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_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/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_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/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9187667
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_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/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/dc/terms/created
2016-05-13T12:52:09+02:00
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1375013.RAztMLr1aPvd07nwyDowa0ZCrTtImahzLggh515y6P1mU
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