Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion> ?p ?o ?g. }
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- NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion type Assertion NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_head.
- NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion description "[Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_provenance.
- NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion evidence source_evidence_literature NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_provenance.
- NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion SIO_000772 22956686 NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_provenance.
- NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion wasDerivedFrom befree-2016 NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_provenance.
- NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_assertion wasGeneratedBy ECO_0000203 NP1011019.RA_zYQ_lk731fziiAdza2scHgwgc6-FFi27UWYaqZLVvY130_provenance.