Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_assertion> ?p ?o ?g. }
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- NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_assertion type Assertion NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_head.
- NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_assertion wasGeneratedBy ECO_0000203 NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_provenance.
- NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_assertion wasDerivedFrom befree-2016 NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_provenance.
- NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_assertion SIO_000772 15148151 NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_provenance.
- NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_assertion evidence source_evidence_literature NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_provenance.
- NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_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." NP444474.RAn30HjtYZ1yNZL4vOyxTLIPaIuFgCK7xEipgl-0RGNKE130_provenance.