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- Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1Ichiro 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 IshiguroJournal of Medical Genetics Mar 2024, 61 (3) 239-243; DOI: 10.1136/jmg-2023-109444
- Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysisGaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash Kulkarni, Biju George, Shaji R VelayudhanJournal of Medical Genetics Aug 2023, 60 (8) 801-809; DOI: 10.1136/jmg-2022-108714
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