Ng AS, Tan YJ, Yi Z, Tandiono M, Chew E, Dominguez J, Macas M, Ng E, Hameed S, Ting S, Tan EK, Foo JN, Kandiah N. Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. Neurobiol Aging. 2018 Aug;68:160.e15-160.e19. Epub 2018 Apr 16 PubMed.

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Mutations

  1. TREM2 R47C