Varaico: Literature-Extracted Genetic Variants

Gene:ALOXE3
Variant:p.I515V
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ALOXE3

NM_021628.3:p.I515V

Associated Papers

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

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Bastaki F et al.

International Journal of Dermatology, 2017

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

Lesueur F et al.

The Journal of Investigative Dermatology, 2007

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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."