Numasawa Y, Yamaura C, Ishihara S, Shintani S, Yamazaki M, Tabunoki H, Satoh JI. Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family. Eur J Neurol. 2011 Sep;18(9):1179-83. PubMed.

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Mutations

  1. TREM2 c.482+2T>C