@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:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_head { this: np:hasAssertion dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_assertion; np:hasProvenance dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_provenance; np:hasPublicationInfo dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_publicationInfo; a np:Nanopublication . dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_assertion a np:Assertion . dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_provenance a np:Provenance . dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_publicationInfo a np:PublicationInfo . } dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_assertion { miriam-gene:998 a ncit:C16612 . lld:C0265268 a ncit:C7057 . dgn-gda:DGN50b120a18c3242bdd3b9f1f3963c31bd sio:SIO_000628 miriam-gene:998, lld:C0265268; a sio:SIO_001121 . } dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_provenance { dgn-np:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_assertion dcterms:description "[These findings, combined with a Dock6 expression profile that is consistent with an AOS phenotype as well as the very recent demonstration of dominant mutations of ARHGAP31 in AOS, establish Cdc42 and Rac1 as key molecules in the pathogenesis of AOS and suggest that other regulators of these Rho GTPase proteins might be good candidates in the quest to define the genetic spectrum of this genetically heterogeneous condition.]. 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:21820096; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP915053.RAzYEXXyVR39wq5Vomjcs7Efc0PrO9ht4EZgG_agcwma8130_publicationInfo { this: dcterms:created "2016-05-13T12:48:38+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }