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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA12

Variant:p.S324fs

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SERPINA12

NM_001382267.1:p.S324fs

hg38:chr14:94489703 GGA>N

Associated Papers

Nagashima-type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants.

Jiang X et al.

The Journal of Dermatology, 2025

39034590 (PubMed )

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

Brandt E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

37684051 (PubMed )

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