Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_assertion description "[Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_assertion evidence source_evidence_literature NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_assertion SIO_000772 17641262 NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_assertion wasDerivedFrom befree-20150227 NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_assertion wasGeneratedBy ECO_0000203 NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978095.RAaWXuCRNYXfegTP0RwqDbsZC7DOJ_q8KGVjS1Zj3dRhg130_provenance.