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- source_evidence_literature type ECO_0000212 NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_assertion wasGeneratedBy ECO_0000203 NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_assertion wasDerivedFrom befree-20150227 NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_assertion SIO_000772 15148151 NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_assertion evidence source_evidence_literature NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.
- NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_assertion description "[To investigate the relative prevalence of SCA1-3, SCA6-8, SCA10, SCA12, and SCA17 gene expansions in Italian families with hereditary ataxia, specifically to verify the occurrence of SCA10, SCA12, and SCA17 in Italy; and to analyze samples from probands with negative test results at the initial screening by means of the repeat expansion detection technique to identify CAG/CTG expansions in novel loci.Patients Two hundred twenty-five unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723849.RAgDtwsZb8qMatQTHIIiNdBxPahZmqKzdCMWV27MOtvGc130_provenance.