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. 2019 Jan 31;10:7. doi: 10.3389/fgene.2019.00007

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Copyright © 2019 Klein, Tremmel, Winter, Fehr, Battke, Scheurenbrand, Schaeffeler, Biskup, Schwab and Zanger.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Genotype-phenotype relation of ABCC11 missense variants to MRP8 protein expression. Relative MRP8 protein abundance in the same human liver samples used for NGS was determined by Western blot analysis (Magdy et al., 2013). Symbols: open black circles, all variants; red filled circles, carriers of LOF-predicted variants; green open circles, carriers of only TOL-predicted variants; green box and whisker: carriers of TOL-predicted variants not carrying LOF-variants (n = 30); red box and whisker: carriers of at least one LOF (n = 73). Novel variants are indicated by a star.