Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease
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DOI: 10.1016/j.molmet.2021.101299
Abstract: A missense variant in the cytoplasmic domain of the insulin receptor (INSR) was identified by exome sequencing in affected members of a four-generation family with fatty liver disease (FLD). The variant (rs766457461, c.4063T>C, p.Y1355H) results… read more here.
Keywords: insulin; family; y1355h; insulin receptor ... See more keywords