congenital disorder of glycosylation type Icongenital disorder of glycosylation type II+1 moreResearch
A novel variant of the ZIP8 gene has been characterized, revealing its role in impaired manganese homeostasis and its association with congenital disorders of glycosylation. This discovery could lead to further research on the genetic basis of these disorders.
functional characterization of a novel zip8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation
Original title: “Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.”