Functional impact of a deep intronic variant in the <i>RPS19</i> gene detected in a case of Diamond-Blackfan anemia syndrome
Authors
- K. Kudo
- Junko Takita
- Kiminori Terui (ORCID: https://orcid.org/0000-0003-1294-8635)
- Yosuke Kawai
- Akie Kobayashi
- Moeka Sato
- Rika Kanezaki (ORCID: https://orcid.org/0000-0003-4384-4871)
- Tsutomu Toki (ORCID: https://orcid.org/0000-0002-0061-9781)
- Ryo Okuse (ORCID: https://orcid.org/0000-0002-0623-8082)
- Tomohiko Sato (ORCID: https://orcid.org/0000-0002-1456-6887)
- Etsuro Ito
- Tatsuhiko Tanaka (ORCID: https://orcid.org/0009-0000-7786-3136)
- Kenichi Yoshida
- Katsushi Tokunaga
- Seishi Ogawa
- Sayaka Kimura
Institutions
- Hirosaki University (JP)
- Kyoto University (JP)
- National Center for Global Health and Medicine (JP)
- National Cancer Research Institute (GB)
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare