Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.G2321Splc
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ABCA12

NM_173076.3:p.G2321Splc

Associated Papers

Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.

Chang CY et al.

Clinical and Experimental Dermatology, 2025

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.

Ho M et al.

Human Genomics, 2024

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Hotz A et al.

Genes, 2024

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