Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.T26_L29delFs
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CYP4F22

NM_173483.4:p.T26_L29delFs

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

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Fioretti T et al.

Diagnostics (basel, Switzerland), 2020

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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."