Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.R229H
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CERS3

NM_001378789.1:p.R229H

Associated Papers

Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations.

Yamamoto M et al.

The Journal of Dermatology, 2021

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Youssefian L et al.

European Journal of Human Genetics : Ejhg, 2017

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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."