Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia
Objectives: Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers. We aimed to study the association between rare variants in protein-coding regions and clin...
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| Format: | Article |
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2023
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| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/82554 |
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| Institution: | Mahidol University |