Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP998699.RAiD7qu9kYiAnqez6dFhPYfGDt8Ty9jCoxKVyIQDY2c4Q#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 15148151 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.