Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.R95C
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SLC39A4

NM_130849.4:p.R95C

Associated Papers

Novel nonsense mutation in the SLC39A4 gene in a Japanese boy with mild acrodermatitis enteropathica.

Ichiki N et al.

The Journal of Dermatology, 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

Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica.

Park CH et al.

Journal of Korean Medical Science, 2010

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

Schmitt S et al.

Human Mutation, 2009

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

Novel SLC39A4 mutations in acrodermatitis enteropathica.

Nakano A et al.

The Journal of Investigative Dermatology, 2003

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."