Li C, Xiao X, Wang J, Shen L, Jiao B. Early-onset familial Alzheimer's disease in a family with mutation of presenilin 2 gene. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Feb 28;46(2):189-194. PubMed.

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Mutations

  1. PSEN2 M239V