Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB8
Variant:p.K316delFs
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SERPINB8

NM_002640.4:p.K316delFs

Associated Papers

SERPINB8-associated peeling skin with palmoplantar keratoderma-A new variant and phenotypic expansion.

Brandt E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 2025

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

Pigors M et al.

American Journal of Human Genetics, 2016

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