N500stop; premature stop codon resulting in an N-terminal truncation of the helicase module; equivalent to S479Afs3, 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