Varaico: Literature-Extracted Genetic Variants

Gene:ALOXE3
Variant:p.A227Splc
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ALOXE3

NM_021628.3:p.A227Splc

Associated Papers

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Wertheim-Tysarowska K et al.

Orphanet Journal of Rare Diseases, 2024

39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Mohamad J et al.

Experimental Dermatology, 2021

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

Hotz A et al.

Genes, 2021

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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."