Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion> ?p ?o ?g. }
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- NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion type Assertion NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_head.
- NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion description "[Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_provenance.
- NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion evidence source_evidence_literature NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_provenance.
- NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion SIO_000772 11939898 NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_provenance.
- NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion wasDerivedFrom befree-20150227 NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_provenance.
- NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_assertion wasGeneratedBy ECO_0000203 NP541719.RA4YdKBXXdtdlTuaFXjLJ6JP_GNIU_eQK6wi-vVMeKinI130_provenance.