Background: Polymorphisms in Ring Finger Protein 213 (RNF213) are significantly associated with moyamoya disease (MMD) in Japan and Korea, and to a lesser degree in China. We performed a hospital-base
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) vari