Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.I2307fs
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ABCA12

NM_173076.3:p.I2307fs

Associated Papers

A novel compound heterozygous variant in the ABCA12 gene associated with mild palmoplantar keratoderma.

Song D et al.

Indian Journal of Dermatology, Venereology and Leprology, 2024

Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis.

Wada Y et al.

The Journal of Dermatology, 2017

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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."