Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB8
Variant:p.M1T
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SERPINB8

NM_002640.4:p.M1T

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

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."