Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.R362*
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CYP4F22

NM_173483.4:p.R362*

Associated Papers

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Diociaiuti A et al.

Dermatology (basel, Switzerland), 2024

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Tang H et al.

Clinical Case Reports, 2021

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

Hotz A et al.

Human Mutation, 2018

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Diociaiuti A et al.

Orphanet Journal of Rare Diseases, 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."