TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat · 2017 · PMC5324646 · PMID 28008748

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highly significantno p-value reported

The p.Glu643del mutation that maps to the scaffold dimerization domain (SDD; residues 408–657) [Larabi et al., 2013 ], showed a highly significant reduction of about 70%.

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