An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.
Kae KoganebuchiKimitoshi SatoKiyotaka FujiiToshihiro KumabeKuniaki HanejiTakashi TomaHajime IshidaKeiichiro JohHidenobu SoejimaShuhei ManoMotoyuki OgawaHiroki OotaPublished in: Annals of human genetics (2021)
Although clinical data show that the symptoms varies, all sequences harboring the risk allele are almost identical with a small number of exceptions, suggesting the MMD phenotypes are unaffected by the variants of this gene and rather would be more affected by environmental factors.