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doi: 10.1038/nm1186
doi: 10.1073/pnas.94.19.10367
Moreover neurofibrillary tangles results from aggregation and hyperphosphorylation of tau protein [34]
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A test set of disease- and non-disease-associated variants To define a set of disease-associated CBS variants, we considered 86 unique missense variants in the CBS mutation database [22] that were not linked to a second variant in the same allele
