http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#head
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#assertion
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#provenance
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#assertion
http://rdf.disgenet.org/resource/gda/DGN267c6c813e070ed83486f7cc729bde57
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5376
http://rdf.disgenet.org/resource/gda/DGN267c6c813e070ed83486f7cc729bde57
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027888
http://rdf.disgenet.org/resource/gda/DGN267c6c813e070ed83486f7cc729bde57
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#provenance
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#assertion
http://purl.org/dc/terms/description
[A moderate increase in the number of PMP22 genes led to hypomyelination comparable to CMT1A, whereas high copy numbers of transgenic PMP22 resulted in phenotypes resembling more severe forms of hereditary motor and sensory neuropathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#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/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10586249
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#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/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/dc/terms/created
2017-10-17T13:15:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP834361.RA2T2w1wBIMZ8xjiMCvEX1-7UNzQzZJCsQVd9WLAIi4eg
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