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1 records shown · first 60Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays.
PMID 26890443 | DOI 10.1089/gtmb.2015.0222 · Genetic testing and molecular biomarkers · 2016 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs33915217 | “RESULTS: We demonstrated that IVS-I-5 (rs33915217) is the most common single-nucleotide variant in our cohort, with the variant allele constituting 26% of the total alleles investigated.” | 0.90 | hgvs_regex_v1 |
| gene | HBB | “CONCLUSION: The TaqMan single nucleotide polymorphism (SNP) genotyping assays are a rapid, accurate, and cost-effective method for the initial screening of β-thalassemia cases, which will minimize the need for direct sequencing of the HBB gene, thus reducing detection costs and increasing throughput.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “The severity of the problem and the pressure it exerts on the health services in the Kingdom of Saudi Arabia forced the introduction of a national premarital screening program to lessen its impact on the society.” | 0.95 | saudi_context_rules_v1 |