Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A8
Variant:p.Q68H
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SLC39A8

NM_001135146.2:p.Q68H

Associated Papers

Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle.

Powers M et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2023

In vitro studies of manganese transport and homeostasis.

Kim S et al.

Methods in Enzymology, 2023

The Impact of ZIP8 Disease-Associated Variants G38R, C113S, G204C, and S335T on Selenium and Cadmium Accumulations: The First Characterization.

Liang ZL et al.

International Journal of Molecular Sciences, 2021

Clinical, molecular and glycophenotype insights in SLC39A8-CDG.

Bonaventura E et al.

Orphanet Journal of Rare Diseases, 2021

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

Park JH et al.

Journal of Inherited Metabolic Disease, 2020

Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.

Choi EK et al.

Scientific Reports, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."