Associated Papers
KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.
Ren Y et al.
American Journal of Medical Genetics. Part A, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Pachyonychia congenita type I presenting with subtle nail changes.
Iorizzo M et al.
Pediatric Dermatology, 0
First case of pachyonychia congenita in the Czech Republic.
Jiráková A et al.
Dermatologic Therapy, 0
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