Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa, Tohru Sugawara, Osuke Migita, Makoto Kashima, Touko Yamazaki, Akihiro Iguchi, Yasuhiro Naiki, Toru Uchiyama, Junya Tamaoki, Hiroki Maeda, Hirotaka Shimizu, Toshinao Kawai, Kosuke Taniguchi, Hiromi Hirata, Makoto Kobayashi, Kimikazu Matsumoto, Kiyoshi Naruse, Kenichiro Hata, Hidenori Akutsu, Takashi Kato, Satoshi Narumi, Katsuhiro Arai, Akira Ishiguro
Journal of Medical Genetics Mar 2024, 61 (3) 239-243; DOI: 10.1136/jmg-2023-109444