Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion> ?p ?o ?g. }
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- NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion type Assertion NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_head.
- NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion description "[DYT1 dystonia is caused by an autosomal dominant mutation that leads to a glutamic acid deletion in torsinA (TA), a member of the AAA+ ATPase superfamily.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_provenance.
- NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion evidence source_evidence_literature NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_provenance.
- NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion SIO_000772 21102408 NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_provenance.
- NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion wasDerivedFrom befree-20140225 NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_provenance.
- NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_assertion wasGeneratedBy ECO_0000203 NP463782.RANX5lT_I614JVPNmA9O6lgSy4hZaEmxETJXqfEQyhh3c130_provenance.