Varaico: Literature-Extracted Genetic Variants

Gene:ALOXE3
Variant:p.G413V
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ALOXE3

NM_001165960.1:p.G413V

Associated Papers

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Hotz A et al.

Genes, 2021

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Borská R et al.

Orphanet Journal of Rare Diseases, 2019

31046801 (PubMed )
Supplement: 13023_2019_1076_MOESM2_ESM.docx

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

Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.

Sugiura K et al.

Acta Dermato-venereologica, 2015

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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."