The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.
Miriam Daphne RendelCecilia VitaliKate Townsend CreasyDavid ZhangEleonora ScorlettiHelen HuangKatharina Sophie SeelingJoseph ParkLeonida HehlMara Sophie VellDonna ConlonSikander Hayatnull nullMichael C PhillipsKai Markus SchneiderDaniel J RaderCarolin Victoria SchneiderPublished in: Med (New York, N.Y.) (2024)
Our study contributes to a better understanding of ERLIN1 by investigating a coding variant that has emerged as a potential gain-of-function mutation with protective effects against MASLD development.
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