GeneticsThe American Journal of Human GeneticsPeer-reviewed
The Genetic Landscape of Diamond-Blackfan Anemia
Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian…·Hanna T. Gazda
This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.
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