Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease
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 in the substitution of histidine for a tyrosine tha...
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Elsevier,
2021-11-01T00:00:00Z.
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A1234.567 |
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