448 Unraveling the pathogenicity of a novel variant in Diamond Blackfan anemia
Objectives/Goals: Diamond Blackfan anemia (DBA) is caused by loss of ribosomal proteins leading to death of red blood cell progenitors. We identified a novel heterozygous variant (c.167+769C>T) in RPL30 in a patient with DBA. We hypothesized that this variant, in a gene not previously studied in DBA...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cambridge University Press
2025-04-01
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| Schriftenreihe: | Journal of Clinical and Translational Science |
| Online-Zugang: | https://www.cambridge.org/core/product/identifier/S2059866124010458/type/journal_article |
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