Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.S1522Y
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ABCA12

NM_173076.3:p.S1522Y

Associated Papers

Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype-phenotype correlation.

Wang B et al.

The Journal of Dermatology, 2025

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