http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_head
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_assertion
http://identifiers.org/ncbigene/546
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/C0025362
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/DGN9996cf1713d6728e906b5e43c53f34a3
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/546
http://rdf.disgenet.org/resource/gda/DGN9996cf1713d6728e906b5e43c53f34a3
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0025362
http://rdf.disgenet.org/resource/gda/DGN9996cf1713d6728e906b5e43c53f34a3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_assertion
http://purl.org/dc/terms/description
[The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_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/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25976463
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_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/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/dc/terms/created
2016-05-13T12:51:28+02:00
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1284188.RAE_00PL8pE2HXFhHLahxFEwpX7yGArcZoDgwytfEw9tM
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