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. El Jellas, P. R. Njolstad, M. E. Lowe, B. B. Johansson, A. Molven, 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.
bioRxiv · Dec 23, 2020Cell Biology