. An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor. Neurobiol Aging. 2018 Nov;71:266.e11-266.e24. Epub 2018 Jun 28 PubMed.

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Mutations

  1. SORL1 c.4214-117G>C
  2. SORL1 Haplotype A