Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.V242fs
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ABCA12

NM_173076.3:p.V242fs

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

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency-related ichthyosis in a child.

Yogarajah J et al.

Skin Health and Disease, 2021

35664977 (PubMed )
Supplement: SKI2-1-e25-s001.docx
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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."