Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion> ?p ?o ?g. }
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- NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion type Assertion NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_head.
- NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion description "[The importance of correct control of eIF2 and eIF2B for normal physiology is underlined by the recent involvement of the five genes that encode the five eIF2B subunits in a severe autosomal recessive neurodegenerative disease, described in young children as CACH (childhood ataxia with central nervous system hypomyelination)/VWM (leukoencephalopathy with vanishing white matter) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_provenance.
- NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion evidence source_evidence_literature NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_provenance.
- NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion SIO_000772 16246171 NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_provenance.
- NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion wasDerivedFrom befree-2016 NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_provenance.
- NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_assertion wasGeneratedBy ECO_0000203 NP519296.RAhMDK8q4mXPNaPQHCNOlbQRIwfpEaH6O21P9ocy6Rg6Q130_provenance.