Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM. Neurobiol Dis. 2020 Jun;139:104817. doi: 10.1016/j.nbd.2020.104817. Epub 2020 Feb 19. PMID: 32087291