Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA12
Variant:p.S324delFs
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SERPINA12

NM_001382267.1:p.S324delFs

Associated Papers

Digenic Biallelic Variants in SERPINB7 and SERPINA12 in a Patient With a Severe Phenotype of Nagashima-Type Palmoplantar Keratosis.

Huang Z et al.

The Journal of Dermatology, 2025

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

Jiang X et al.

The Journal of Dermatology, 2025

Phenotypic and genotypic analysis of SERPINA12-related autosomal recessive palmoplantar keratoderma in southwestern China.

Li Z et al.

The Journal of Dermatology, 2025

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 2025

Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.

Liu Y et al.

The British Journal of Dermatology, 2024

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

Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.

Liu Y et al.

The British Journal of Dermatology, 2022

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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