Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation
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ZIP8, encoded by SLC39A8, mediates cellular uptake of divalent metal ions, including manganese (Mn). Mutations in SLC39A8 cause a congenital disorder of glycosylation (CDG) associated with Mn deficiency (SLC39A8-CDG). Here, we report a novel case of SLC39A8-CD... ...
