Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion> ?p ?o ?g. }
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- NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion type Assertion NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_head.
- NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion wasGeneratedBy ECO_0000203 NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_provenance.
- NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion wasDerivedFrom gad-20130706 NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_provenance.
- NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion SIO_000772 15148151 NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_provenance.
- NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion evidence source_evidence_literature NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_provenance.
- NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_assertion description "[ The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP62308.RAh795OhtCWinJZ_g9dYPlLL-aSVpptoGD_ZbLOk1aFjA130_provenance.