Varaico: Literature-Extracted Genetic Variants

Gene:ALOXE3
Variant:p.K567_L568Splc
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ALOXE3

NM_001165960.1:p.K567_L568Splc

Associated Papers

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Wang T et al.

International Journal of Molecular Sciences, 2015

The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.

Li H et al.

The Journal of Investigative Dermatology, 2012

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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."