Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.A99T
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SLC39A4

NM_130849.4:p.A99T

Associated Papers

The biomedical relationship corpus of the BioRED track at the BioCreative VIII challenge and workshop.

Islamaj R et al.

Database : the Journal of Biological Databases and Curation, 2024

Variants of SLC39A4 cause acrodermatitis enteropathica in Tibetan, Yi, and Han families in Sichuan region of southwestern China: a case report series.

Li Z et al.

Frontiers in Medicine, 2024

Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation.

Hua W et al.

Frontiers in Pediatrics, 2022

Acrodermatitis enteropathica: a hereditary form of zinc deficiency.

Higuchi S et al.

Qjm : Monthly Journal of the Association of Physicians, 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

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

Zhang T et al.

Nature Communications, 2016

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant.

Jung AG et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2011

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."