Federica Perrone, Rita Cacace, Christine Van Broeckhoven on GnomAD: Stunning Variation Seen in Largest Collection of Human Genomes
COMMENT We also have examined a LRKK2 frameshift variant (c.6187_6191delCTCTA; p.L2063fs*) in lymphoblastoid cell lines (LCLs) of an individual affected by amnestic MCI, without Parkinson’s disease (Perrone et al., 2018). The variant was a five-base-pair deletion ...