http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_head
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_assertion
http://identifiers.org/ncbigene/60506
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/C3711543
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/DGNdd025ce435b8e05660a50ca032b439c1
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/60506
http://rdf.disgenet.org/resource/gda/DGNdd025ce435b8e05660a50ca032b439c1
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3711543
http://rdf.disgenet.org/resource/gda/DGNdd025ce435b8e05660a50ca032b439c1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_assertion
http://purl.org/dc/terms/description
[The apparent clinical heterogeneity in X-linked CSNB reflects the recently described genetic heterogeneity in which the locus for complete CSNB (CSNB1) was mapped to Xp11.4, and the locus for incomplete CSNB (CSNB2) was refined within Xp11.23 (ref.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_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/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9662400
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_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/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/dc/terms/created
2016-05-13T12:52:20+02:00
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1399290.RAJxKoabhsriThMNkuF2SnbHDcNksMwEDx5uizQU71CTk
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