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2 records shown · first 60Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.
PMID 39534793 | PMCID PMC11554897 | DOI 10.1016/j.jtumed.2024.10.004 · Journal of Taibah University Medical Sciences · 2024 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs4671393 | “OBJECTIVES: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the BCL11A gene and the rs9399137 variant of the HBS1L-MYB gene with thalassemia in patients from the population of Punjab, Pakistan.” | 0.90 | hgvs_regex_v1 |
| gene | BCL11A | “Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs1427407 | “OBJECTIVES: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the BCL11A gene and the rs9399137 variant of the HBS1L-MYB gene with thalassemia in patients from the population of Punjab, Pakistan.” | 0.90 | hgvs_regex_v1 |
Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.
PMID 33100714 | PMCID PMC7573094 | DOI 10.1007/s12288-020-01270-3 · Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs4671393 | “SNPs at site locus rs4671393 on BCL11A, and at loci rs28384513 and rs9399137 on HBS1L-MYB were identified using TaqMan genotyping assay.” | 0.90 | hgvs_regex_v1 |
| gene | BCL11A | “Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Jeddah | “A total of 132 SCA patients whose condition was stable were recruited from Jeddah city, Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |