| 1 | DKC8, TP53 |
| De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. | |
| Toki T, Yoshida K, Wang R, Nakamura S, Maekawa T, Goi K, Katoh MC, Mizuno S, Sugiyama F, Kanezaki R, Uechi T, Nakajima Y, Sato Y, Okuno Y, Sato-Otsubo A, Shiozawa Y, Kataoka K, Shiraishi Y, Sanada M, Chiba K, Tanaka H, Terui K, Sato T, Kamio T, Sakaguchi H, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Kanno H, Miyano S, Kojima S, Ishiguro A, Sugita K, Kenmochi N, Takahashi S, Eto K, Ogawa S, Ito E. | |
| Am J Hum Genet 103(3):440-447. doi: 10.1016/j.ajhg.2018.07.020. Epub 2018 Aug 23. 2018 | |