A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Reith M, Zeltner L, Schäferhoff K, Witt D, Zuleger T, Haack TB, Bornemann A, Alber M, Ruf S, Schoels L, et al. Int J Mol Sci. 2022 Feb 18; 23(4). Epub 2022 Feb 18.