http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#head http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#assertion http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#provenance http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#assertion http://rdf.disgenet.org/resource/gda/DGN77a88fff680113b3693169106b30d682 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/546 http://rdf.disgenet.org/resource/gda/DGN77a88fff680113b3693169106b30d682 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0025362 http://rdf.disgenet.org/resource/gda/DGN77a88fff680113b3693169106b30d682 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#provenance http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#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/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#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/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25976463 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#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/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/dc/terms/created 2017-10-17T13:10:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP96078.RAftKCSbIbjZS6OVpvVHjXxMyES4AOHibSGW2Z5-w-lqY 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