Cell BiologybioRxiv
The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines pathogenicity
A. Gravdal, X. Xiao, M. Cnop…·K. Fjeld
The paper investigates how the position of single-base deletions in the CEL VNTR affects pathogenicity, finding that deletions in the proximal VNTR region cause the most severe effects.
DOI 10.1016/j.jbc.2021.100661