Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A2
Variant:p.W152R
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SLC30A2

NM_001004434.3:p.W152R

Associated Papers

A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.

Li Z et al.

Experimental Dermatology, 2020

High proportion of transient neonatal zinc deficiency causing alleles in the general population.

Golan Y et al.

Journal of Cellular and Molecular Medicine, 2019

The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.

Golan Y et al.

Metallomics : Integrated Biometal Science, 2017

Transient Neonatal Zinc Deficiency Caused by a Novel Mutation in the SLC30A2 Gene.

Liew HM et al.

Pediatric Dermatology, 2017

Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency.

Itsumura N et al.

Pediatric Research, 2016

Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION.

Golan Y et al.

The Journal of Biological Chemistry, 2016

Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.

Kasana S et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015

Current understanding of ZIP and ZnT zinc transporters in human health and diseases.

Kambe T et al.

Cellular and Molecular Life Sciences : Cmls, 2014

In situ dimerization of multiple wild type and mutant zinc transporters in live cells using bimolecular fluorescence complementation.

Lasry I et al.

The Journal of Biological Chemistry, 2014

Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant.

Itsumura N et al.

Plos One, 2013

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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."