P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8

Autor: Dofash, L., Monahan, G., Servián-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Beilharz, T., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.
Zdroj: In Neuromuscular Disorders October 2022 32 Supplement 1:S45-S45
Databáze: ScienceDirect