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PSEN1 F283L

MUTATIONS PSEN1 73664818 GRCh37 (105) T G Exon 8 Point, Missense Coding Unknown, but predicted to have a damaging effect according to SIFT, Polyphen, and Mutation Taster. Neuropathology consistent with AD; absence of CBD pathology (2 cases in 1 family). MRI showed ...

PSEN1 W165C (G> T) (W161C)

MUTATIONS 73653575 GRCh37 (105) G T PSEN1 W161C Exon 6 Point, Missense Coding Unknown, but in silico analyses (SIFT and polyphen) predict the mutation is deleterious, probably damaging. Unknown, MRI showed diffuse cerebral and cerebellar atrophy in one case. W165C ...

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  • Date Range : Feb 2019 to Feb 2020 x

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