You C, Zeng W, Deng L, Lei Z, Gao X, Zhang VW, Wang Y. Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa. Front Neurol. 2020;11:319. Epub 2020 May 5 PubMed.

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Mutations

  1. PSEN1 W294Ter