Article
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Genetic testing and molecular biomarkers - 1 Sept 2018
Alsultan Abdulrahman, Al-Suliman Ahmed M, Aleem Aamer, AlGahtani Farjah H, Alfadhel Majid
Abstract excerpt
BACKGROUND: Sickle cell disease (SCD) is a monogenic disease that has wide variety of phenotypes with both and environmental factors contributing to its severity. METHODS: We performed whole-exome sequencing (WES) in 22 Saudi SCD patients to identify variants that could explain differences in disease phenotypes. All variants, except those that were benign and likely benign, described in the ClinVar database, were...
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