Browsing Centre for Neuroscience, Surgery and Trauma by Subject "Mutation, Missense"
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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
(Elsevier, 2018-06-25)Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are ...