Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Magliocca V, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Barrick R, Trivisano M, Micalizzi A, Borghi R, Messina E, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M.
Flex E, et al. Among authors: magliocca v.
Hum Mol Genet. 2023 Jan 13;32(3):473-488. doi: 10.1093/hmg/ddac213.
Hum Mol Genet. 2023.
PMID: 36018820
Free PMC article.