Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion description "[Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion evidence source_evidence_literature NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion SIO_000772 15376319 NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion wasDerivedFrom befree-2016 NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_assertion wasGeneratedBy ECO_0000203 NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.
- befree-2016 importedOn "2016-02-19" NP460598.RAc9kbxGFaHi5vfyp9Cv5xakcQJw4dmot7nut3dxkTwGc130_provenance.