Varaico: Literature-Extracted Genetic Variants

Gene:ALOX12B
Variant:p.R499H
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ALOX12B

NM_001139.3:p.R499H

Associated Papers

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Xiang R et al.

Acta Dermato-venereologica, 2025

Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.

Choi YM et al.

Cancers, 2021

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

Borská R et al.

Orphanet Journal of Rare Diseases, 2019

Autosomal recessive congenital ichthyoses in the Czech Republic.

Bučková H et al.

The British Journal of Dermatology, 2016

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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."