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PSEN1 L381F

MUTATIONS PSEN1 73683845 GRCh37/hg19 C T Exon 11 Point, Missense Coding In silico analysis suggests that the mutation affects the folding free energy and flexibility of the protein. Neuropathology consistent with AD, including neuritic amyoid plaques and neurofibri

MAPT N410H

MUTATIONS MAPT 44101439 GRCh37/hg19 A C Exon 13 Point, Missense Coding Increase in the 4R/3R tau-mRNA ratio in patient brain. Recombinant tau with the N410H mutation had increased tau filament formation compared with wild-type tau, a decreased rate of microtubule a

Terry Brown


Wesley United Methodist Church
Beaumont, United States

Rachel Atkinson


Wicking Dementia and Research Education Centre
Hobart, Australia

Larry Baum


The Chinese University of Hong Kong
Shatin, Hong Kong

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