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. 2020 Nov 17;10:19986. doi: 10.1038/s41598-020-76725-8

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© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2020

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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Genetic features of solved PRSS56 families. (a) Pedigree and haplotype analysis of F8 showing minimal area of homozygosity bounded by rs1435850 and exm2269383. Major allele is marked as A and minor allele marked as B, with PRSS56 variant indicated by M, and proband indicated by the arrow. (b) Sequencing chromatograms showing segregation of two missense p.(T142K) and p.(A169E) variants among all affected individuals. (c) Pedigrees and variants identified in other solved families. Black shading indicates phenotyped affected individuals, while gray shading indicates familial report of affected status or thick glasses. (d) Protein diagram of PRSS56 showing location of all identified variants in this study. Frameshifts (triangle), splice altering (square), and missense (circle) variants are marked; magenta shows newly described variants. (e) Homology modeling of PRSS56. + , sampled individuals.