Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_assertion> ?p ?o ?g. }
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- NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_assertion type Assertion NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_head.
- NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_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." NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_provenance.
- NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_assertion evidence source_evidence_literature NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_provenance.
- NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_assertion SIO_000772 22956686 NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_provenance.
- NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_assertion wasDerivedFrom befree-20150227 NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_provenance.
- NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_assertion wasGeneratedBy ECO_0000203 NP840291.RA5hM935Qq76SZvI8qCT54SVEHpum8qqFU9OYwlEIIuws130_provenance.