Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.R397C
Back to variants list

CYP4F22

NM_173483.4:p.R397C

Associated Papers

Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.

Takeichi T et al.

Journal of Lipid Research, 2022

Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.

Zhao L et al.

The Journal of Dermatology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."