1. Braun, Daniela A, Rao, Jia, Mollet, Geraldine, Antignac, Corinne, Hildebrandt, Friedhelm. 2017. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. In Nature genetics, 49, 1529-1538. doi:10.1038/ng.3933. https://pubmed.ncbi.nlm.nih.gov/28805828/
2. Goswami, Moloy T, VanDenBerg, Kelly R, Han, Sumin, Feng, Felix Y, Tomlins, Scott A. 2019. Identification of TP53RK-Binding Protein (TPRKB) Dependency in TP53-Deficient Cancers. In Molecular cancer research : MCR, 17, 1652-1664. doi:10.1158/1541-7786.MCR-19-0144. https://pubmed.ncbi.nlm.nih.gov/31110156/
3. Hiraide, Takuya, Hayashi, Taiju, Ito, Yusuke, Saitsu, Hirotomo, Fukuda, Tokiko. 2024. Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome. In Frontiers in pediatrics, 12, 1360867. doi:10.3389/fped.2024.1360867. https://pubmed.ncbi.nlm.nih.gov/38628357/
4. Treimer, Ernestine, Niedermayer, Kathrin, Schumann, Sven, Schmeisser, Michael J, Kühl, Susanne J. 2021. Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis. In Gene expression patterns : GEP, 42, 119215. doi:10.1016/j.gep.2021.119215. https://pubmed.ncbi.nlm.nih.gov/34619372/
5. Domingo-Gallego, Andrea, Furlano, Mónica, Pybus, Marc, Torra, Roser, Ars, Elisabet. 2019. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. In BMC nephrology, 20, 126. doi:10.1186/s12882-019-1317-y. https://pubmed.ncbi.nlm.nih.gov/30975089/
6. Herrera-Rivero, Marisol, Hofer, Edith, Maceski, Aleksandra, Stoll, Monika, Berger, Klaus. 2023. Evidence of polygenic regulation of the physiological presence of neurofilament light chain in human serum. In Frontiers in neurology, 14, 1145737. doi:10.3389/fneur.2023.1145737. https://pubmed.ncbi.nlm.nih.gov/36970523/
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