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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
TypeEntitySource evidenceConfidenceExtractor
variantrs28384513“SNPs at site locus rs4671393 on BCL11A, and at loci rs28384513 and rs9399137 on HBS1L-MYB were identified using TaqMan genotyping assay.”0.90hgvs_regex_v1
geneBCL11A“Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.”0.98hgnc_dict_v1
phenotypesickle cell anemia“Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.”0.98phenotype_alias_lexicon_v2
populationSaudi Arabia, Jeddah“A total of 132 SCA patients whose condition was stable were recruited from Jeddah city, Saudi Arabia.”0.95saudi_context_rules_v1