Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_assertion> ?p ?o ?g. }
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- NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_assertion type Assertion NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_head.
- NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_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." NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_provenance.
- NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_assertion evidence source_evidence_literature NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_provenance.
- NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_assertion SIO_000772 22956686 NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_provenance.
- NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_assertion wasDerivedFrom befree-2016 NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_provenance.
- NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_assertion wasGeneratedBy ECO_0000203 NP1011017.RAORy2sExNQE_J1W3-iG4jXaHCHolnYXnXLks9vVlUyg0130_provenance.