The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease
一个与早发性阿尔茨海默病相关的PSEN1杂合功能缺失变异体的奇特案例
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影响因子:
doi:10.1186/s44477-025-00004-x
Sanjuan-Ruiz, Inmaculada; Serneels, Lutgarde; Craessaerts, Katleen; Goate, Alison; Annaert, Wim; Chávez-Gutiérrez, Lucía; Shi, Yonggang; Sheikh-Bahaei, Nasim; Jen, Joanna C; Ramos, Eliana Marisa; Campan, Mihaela; Ward, Pamela M; Magaki, Shino; Bartlone, Kelly; Vinters, Harry V; Craig, David W; Ringman, John M; De Strooper, Bart
