Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_assertion type Assertion NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_head.
- NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_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." NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_provenance.
- NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_assertion evidence source_evidence_literature NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_provenance.
- NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_assertion SIO_000772 11939898 NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_provenance.
- NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_assertion wasDerivedFrom befree-2016 NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_provenance.
- NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_assertion wasGeneratedBy ECO_0000203 NP351115.RAJ1eq9cw62SGaVujUMwm9fKS01misAuy48lapv-nZNe0130_provenance.