Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP331335.RA97nedYg2sH5x6JjvtgqchE7j5Y91GBBBDrFpktz095I130_provenance.