Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.P200L
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SLC39A4

NM_130849.4:p.P200L

Associated Papers

Acrodermatitis Enteropathica in a Child in Bahrain: A Case Report and Literature Review.

Isa HM et al.

Cureus, 2025

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica.

Kiener S et al.

Genes, 2021

Acute onset of blisters in an infant with acrodermatitis enteropathica: A case report.

Cleminson K et al.

Sage Open Medical Case Reports, 2021

Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.

Zhong W et al.

Bmc Pediatrics, 2020

31987033 (PubMed )
Supplement: 12887_2020_1942_MOESM1_ESM.xlsx › Sheet1

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.

Abu-Duhier F et al.

Dermatology Research and Practice, 2018

Structural insights of ZIP4 extracellular domain critical for optimal zinc transport.

Zhang T et al.

Nature Communications, 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

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.

Schmitt S et al.

Human Mutation, 2009

Regulation and function of Zip4, the acrodermatitis enteropathica gene.

Andrews GK

Biochemical Society Transactions, 2008

The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency.

Dufner-Beattie J et al.

Human Molecular Genetics, 2007

Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter.

Wang F et al.

Human Molecular Genetics, 2004

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.

Küry S et al.

Human Mutation, 2003

Novel SLC39A4 mutations in acrodermatitis enteropathica.

Nakano A et al.

The Journal of Investigative Dermatology, 2003

[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4].

Lehnert T et al.

Klinische Padiatrie, 0

Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.

Kuliyev E et al.

The Journal of Biological Chemistry, 0

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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."