Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion> ?p ?o ?g. }
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- NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion type Assertion NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_head.
- NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion wasGeneratedBy ECO_0000203 NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_provenance.
- NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion wasDerivedFrom lhgdn-20090331 NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_provenance.
- NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion SIO_000772 12134148 NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_provenance.
- NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion evidence source_evidence_literature NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_provenance.
- NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_assertion description "[SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP141640.RAlUSN475F3XtuRIEe6t6nhFIjFzkECoHjRftbut9u0J8130_provenance.