G943stop; premature stop codon results in C-terminal truncation of the helicase module; equivalent to R888fs, a frameshift mutation in the human homolog (SKIV2L) that causes trichohepatoenteric syndrome (THES)
List of references used specifically to curate the information in Overview section.
Orlando LJ, et al. (2022) A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations. MicroPubl Biol 2022