Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion type Assertion NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_head.
- NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion description "[We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_provenance.
- NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion evidence source_evidence_literature NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_provenance.
- NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion SIO_000772 22956686 NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_provenance.
- NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion wasDerivedFrom befree-2016 NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_provenance.
- NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_assertion wasGeneratedBy ECO_0000203 NP1011018.RAYFlgk71PVT5EjZO_wl8zcAVlO-P15VshmWWPL1Azez4130_provenance.