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. 2022 Feb 10;13:800. doi: 10.1038/s41467-022-28343-3

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — a Table of 9 of the KRT82 damaging variants that fall in a domain previously associated with pathogenic keratin variants in other diseases. b schematic representation of KRT82 with domains (turquoise), AA variants (blue), and conservation score (purple) (1 = highly conserved). c Conservation of KRT82 amino acids across 7 different species: human, mouse, sheep, rhesus monkey, sea lion, vampire bat, and armadillo. AA variants are highlighted in red (LoF), blue (Missense), and green (Splicing). Amino acid change of variant is annotated in red above. EBS = epidermolysis bullosa simplex; CC = Cryptogenic Cirrhosis; DNEPPK = diffuse non-epidermolytic palmoplantar keratoderma; BCIE = bullous congenital ichthyosiform erythroderma; IBS = ichthyosis bullosa of Siemens; MECD = Meesmann’s epithelial corneal dystrophy; WSN = white sponge nevus; PC = pachyonychia congenita; FNEPPK = focal non-epidermolytic palmoplantar keratoderma; SM = steatocystoma multiplex; EPPK = epidermolytic palmoplantar keratoderma; M = monilethrix.