http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#head http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#assertion http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#provenance http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#assertion http://rdf.disgenet.org/resource/gda/DGN1087c41d0c8eda57e15756fea96c5fcb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7319 http://rdf.disgenet.org/resource/gda/DGN1087c41d0c8eda57e15756fea96c5fcb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714756 http://rdf.disgenet.org/resource/gda/DGN1087c41d0c8eda57e15756fea96c5fcb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#provenance http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#assertion http://purl.org/dc/terms/description [All affected male individuals share the typical clinical phenotype, all carrier females are unaffected and presented with a completely skewed X inactivation in blood.We conclude that 1.) X-linked intellectual disability type Nascimento is a clinically very distinct entity that might be underdiagnosed to date.2.) So far, all females carrying a familial UBE2A aberration have a completely skewed X inactivation and are clinically unaffected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#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/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24053514 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#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/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/dc/terms/created 2017-10-17T13:17:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1089462.RA-LAHCtUVV6LZtWV_cVON1anB3r2xdrGc7ljmDz5IfYE 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