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Case Reports

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan; Department of Pediatrics, NHO Hirosaki General Medical Center, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Division of Cancer Evolution, National Cancer Center Research Institute, Tokyo Japan
Genome Medical Science Project, National Institute of Global Health and Medicine, Japan Institute for Health Security, Tokyo
Genome Medical Science Project, National Institute of Global Health and Medicine, Japan Institute for Health Security, Tokyo
Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto
Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; Institute for the Advanced Study of Human Biology (ASHBi), Kyoto University, Kyoto, Japan; Kindai University Faculty of Medicine, Osaka
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan; Department of Community Medicine, Hirosaki University Graduate School of Medicine, Hirosaki
Haematologica Early view Jan 22, 2026 https://doi.org/10.3324/haematol.2025.300131

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Early view : Case Reports
 
DOI
https://doi.org/10.3324/haematol.2025.300131
 
Published
2026-01-22
Published By
Ferrata Storti Foundation, Pavia, Italy
Print ISSN
0390-6078
Online ISSN
1592-8721
 
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Copyright (c) 2026 Ferrata Storti Foundation
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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