Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.R326*
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CYP4F22

NM_173483.4:p.R326*

Associated Papers

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

Hotz A et al.

Human Mutation, 2018

High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Tsukamoto T et al.

Scientific Reports, 2017

29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1

Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.

Feng C et al.

Clinical and Experimental Dermatology, 2017

Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.

Palamar M et al.

Ophthalmic Genetics, 2015

Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.

Swink SM et al.

Pediatric Dermatology, 0

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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."