Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion> ?p ?o ?g. }
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- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion type Assertion NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_head.
- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion description "[Our study illustrates that ARX polyA expansions are primarily associated with syndromic MR and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of MR with epilepsy and/or dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
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- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion wasDerivedFrom befree-20140225 NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion wasGeneratedBy ECO_0000203 NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.