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Intern Med. 2025 Mar 8; Epub 2025 Mar 8 PubMed.David Hilbert
University of Illinois ChicagoUnited States
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
Maria Consuelo Segura Delgado
, Peru
Robert Mach
University of Pennsylvania, United States
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