http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_head
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion
http://identifiers.org/ncbigene/51741
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/C0087012
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/DGN05c9fd2dc6036f5fb0636b7c0506a5a0
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/51741
http://rdf.disgenet.org/resource/gda/DGN05c9fd2dc6036f5fb0636b7c0506a5a0
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0087012
http://rdf.disgenet.org/resource/gda/DGN05c9fd2dc6036f5fb0636b7c0506a5a0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion
http://purl.org/dc/terms/description
[Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_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/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25411445
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_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/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/dc/terms/created
2016-05-13T12:51:07+02:00
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1238804.RAut4XrdJdhf7TLT7KR-utx6BYS-p0fqVHdVU-9V4fbNs
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