Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.E328K
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CYP4F22

NM_173483.4:p.E328K

Associated Papers

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Esperón-Moldes U et al.

Plos One, 2020

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Lima Cunha D et al.

Molecular Genetics & Genomic Medicine, 2019

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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."