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- source_evidence_literature type ECO_0000212 NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_assertion description "[Fragile X Syndrome (FXS), the most common inherited form of mental retardation, is caused by expansion of a CGG/CCG repeat tract in the 5'-untranslated region of the fragile X mental retardation (FMR1) gene, which changes the functional organization of the gene from euchromatin to heterochromatin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_assertion evidence source_evidence_literature NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_assertion SIO_000772 24261641 NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_assertion wasDerivedFrom befree-2016 NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_assertion wasGeneratedBy ECO_0000203 NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.
- befree-2016 importedOn "2016-02-19" NP1130299.RA3piJ1ZNkAlH4lbUAs9X2R--9S-MIwXAyxZxmEwx5q98130_provenance.