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Katia Lopes


Rush University Medical Center
United States

Davina Biel


Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Germany
Germany

PSEN1 S170del (delTCT)

MUTATIONS PSEN1 73653588_73653590 GRCh37/hg19 TCT--- 73186880_73186882 GRCh38/hg38 TCT--- Exon 6 Coding Unknown, although a variant resulting in S170 deletion (DNA change unknown) resulted in an increased Aβ42/Aβ40 ratio and a decreased Aβ37/42 ratio in cells. Unkn

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