Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.S783N
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BCL11A

NM_022893.4:p.S783N

Associated Papers

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Al-Subaie AM et al.

Journal of Clinical Medicine, 2026

41753033 (PubMed )
Supplement: jcm-15-01345-s001.zip › jcm-4040495-supplementary.pdf

Base editing of key residues in the BCL11A-XL-specific zinc finger domains derepresses fetal globin expression.

Rajendiran V et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

The rs61742690 (S783N) single nucleotide polymorphism is a suitable target for disrupting BCL11A-mediated foetal-to-adult globin switching.

Abdulazeez S et al.

Plos One, 2019

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