1. Bi, Xiaoman, Zhang, Qing, Chen, Lei, Wang, Qian-Fei, Zhang, Rui. 2022. NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. In Journal of hematology & oncology, 15, 101. doi:10.1186/s13045-022-01318-z. https://pubmed.ncbi.nlm.nih.gov/35902954/
2. Ji, Juhua, Yang, Mingming, Jia, JunJun, Zhu, Baofeng, Chu, Xin. 2023. A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene. In Human genome variation, 10, 13. doi:10.1038/s41439-023-00241-0. https://pubmed.ncbi.nlm.nih.gov/37055399/
3. Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Hoffmann, Georg F, Staufner, Christian. 2024. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease. In Molecular genetics and metabolism, 141, 108118. doi:10.1016/j.ymgme.2023.108118. https://pubmed.ncbi.nlm.nih.gov/38244286/
4. Zou, Jing, Zhao, Zikai, Zhang, Guoping, Zhang, Qing, Pyykkö, Ilmari. 2022. MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac. In Journal of otology, 17, 175-181. doi:10.1016/j.joto.2022.03.001. https://pubmed.ncbi.nlm.nih.gov/35847575/
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6. Zhozhikov, Leonid, Vasilev, Filipp, Maksimova, Nadezhda. 2024. Protein-Variant-Phenotype Study of NBAS Using AlphaFold in the Aspect of SOPH Syndrome. In Proteins, 93, 871-884. doi:10.1002/prot.26764. https://pubmed.ncbi.nlm.nih.gov/39641476/
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