@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_head { this: np:hasAssertion dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_assertion; np:hasProvenance dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_provenance; np:hasPublicationInfo dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_publicationInfo; a np:Nanopublication . dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_assertion a np:Assertion . dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_provenance a np:Provenance . dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_assertion { miriam-gene:8626 a ncit:C16612 . lld:C0936016 a ncit:C7057 . dgn-gda:DGNe8d570dde0a6ecf2debe2c935237aa72 sio:SIO_000628 miriam-gene:8626, lld:C0936016; a sio:SIO_001122 . } dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_provenance { dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_assertion dcterms:description "[This E153X nonsense point mutation has not been described previously in cases of AIS, and could lead to the synthesis of a short truncated (153 vs 919 residues) non functional AR probably responsible for the phenotype of complete androgen insensitivity syndrome (CAIS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:11225909; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP799824.RA1vSkeFU8JF4q8buXvuZdXmzW5Gtue0VDhDW1B0cJUgQ130_publicationInfo { this: dcterms:created "2015-08-25T14:45:44+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }