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
Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.
Liu X et al.
Npj Precision Oncology, 2021
34007008 (PubMed )
Supplement: 41698_2021_180_MOESM3_ESM.xlsx › Sheet1
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
Duverger O et al.
Plos Genetics, 2018
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