نتایج جستجو برای: bcl11a
تعداد نتایج: 301 فیلتر نتایج به سال:
Biological interpretation of GWAS data frequently involves analyzing unsigned genomic annotations comprising SNPs involved in a biological process and assessing enrichment for disease signal. However, it is often possible to generate signed annotations quantifying whether each SNP allele promotes or hinders a biological process, e.g., binding of a transcription factor (TF). Directional effects ...
Abstract DNA methyltransferase 1 (DNMT1) is a major epigenetic regulator of the formation large macromolecular complexes that repress human ?-globin expression by maintaining methylation. However, very little known about association DNMT1 variants with ?-thalassemia phenotypes. We systematically investigated associations between in and phenotypes 1142 subjects identified novel missense mutation...
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