DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
Li Y, Xu A, Ouyang Q, Zhang W, Zhang C, Chen Z, Zhou D, Zhang B, Duan W, Zhao X, et al. Hepatol Int. 2023 Jun; 17(3):648-661. Epub 2023 Feb 2.