Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_assertion type Assertion NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_head.
- NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_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." NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_provenance.
- NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_assertion evidence source_evidence_literature NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_provenance.
- NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_assertion SIO_000772 17641262 NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_provenance.
- NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_assertion wasDerivedFrom befree-2016 NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_provenance.
- NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_assertion wasGeneratedBy ECO_0000203 NP621052.RAKt2Hfz-nHm9wSSrjGIgOCgA66MSHwBtu2Johd3nK1LI130_provenance.