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. 2024 Apr 9;15:1379366. doi: 10.3389/fgene.2024.1379366

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Copyright © 2024 Shao, Yang, Li, Cheng, Kang, Liu, Ma, Duan and Zhang.

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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(A) Family pedigree. (B) Sanger sequencing in the proband and II:1 showing compound variants c.712A>T(p.Arg238Ter) and c.2744A>T(p.Gln915Leu) in SNX14, heterozygous in mother and father. (C) SNX14 exons location of variants indicated. The structural model of the SNX14 protein and the position of the two variants identified in this study are shown in blue. Phylogenetic comparison of protein encoded by SNX14 across species. (D) Homology modeling of wild-type and mutant SNX14 c.2744A>T(p.Gln915Leu) variants. The remodeled structure revealed that the variant from Gln to Leu at amino acid 915 broke two hydrogen bonds, which could affect the stability of the SNX14 protein.