Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.A327delFs
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CYP4F22

NM_173483.4:p.A327delFs

Associated Papers

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hotz A et al.

Human Mutation, 2018

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

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Lefèvre C et al.

Human Molecular Genetics, 2006

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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."