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Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: arai k. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
[Girl with IPEX syndrome with low expression of Foxp3].
Horiuchi S, Ishiguro A, Nakagawa T, Shoji K, Nagai A, Arai K, Horikawa R, Kawai T, Watanabe N, Onodera M. Horiuchi S, et al. Among authors: arai k. Nihon Rinsho Meneki Gakkai Kaishi. 2012;35(6):526-32. doi: 10.2177/jsci.35.526. Nihon Rinsho Meneki Gakkai Kaishi. 2012. PMID: 23291488 Free article. Japanese.
2,891 results