Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_assertion description "[A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_assertion evidence source_evidence_literature NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_assertion SIO_000772 21426321 NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_assertion wasDerivedFrom befree-20140225 NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_assertion wasGeneratedBy ECO_0000203 NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.
- befree-20140225 importedOn "2014-02-25" NP348347.RAFSdniagAxSPNFYs7pHBWD5hMJMbDk4aNoYe_JsAnK70130_provenance.