http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#head
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#assertion
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#provenance
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#assertion
http://rdf.disgenet.org/resource/gda/DGN9713cb8fa5cad8b052b0b4562275a066
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4204
http://rdf.disgenet.org/resource/gda/DGN9713cb8fa5cad8b052b0b4562275a066
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0025362
http://rdf.disgenet.org/resource/gda/DGN9713cb8fa5cad8b052b0b4562275a066
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#provenance
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#assertion
http://purl.org/dc/terms/description
[The finding of a significant number of copy number polymorphisms in the genome in the normal population, means that assigning pathogenicity to deletions and duplications in patients with mental retardation can be difficult but has been identified for duplications of MECP2 and L1CAM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#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/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16987873
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#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/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/dc/terms/created
2017-10-17T13:14:29+02:00
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP675899.RAWEMQGtENzfdmuI_wXDG7RSghSfLaKRj69eCduiGcvf8
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