Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia
Abstract Introduction Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins. Methods We conducted a genotype‐ph...
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Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2024-12-01
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Series: | eJHaem |
Subjects: | |
Online Access: | https://doi.org/10.1002/jha2.1031 |
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