Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_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." NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_assertion evidence source_evidence_literature NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_assertion SIO_000772 17641262 NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_assertion wasDerivedFrom befree-20140225 NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_assertion wasGeneratedBy ECO_0000203 NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_provenance.