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- source_evidence_literature type ECO_0000212 NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- 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.
- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion evidence source_evidence_literature NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion SIO_000772 21204215 NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion wasDerivedFrom befree-20140225 NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_assertion wasGeneratedBy ECO_0000203 NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP719183.RA0viDKGnaWoEPX4VLoMrBZH110RSTmEAUL5jK6lc-BJ0130_provenance.