Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_assertion> ?p ?o ?g. }
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- NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_assertion type Assertion NP220177.RA6IkiFB67ZKFjBJiw7fgv0uEvR2Uq6HcfBYIGqeXaGlY130_head.
- 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.