Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_assertion> ?p ?o ?g. }
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- NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_assertion type Assertion NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_head.
- NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_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." NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_assertion evidence source_evidence_literature NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_assertion SIO_000772 21204215 NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_assertion wasDerivedFrom befree-20140225 NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_assertion wasGeneratedBy ECO_0000203 NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.