Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G783A
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BCL11B

NM_138576.4:p.G783A

Associated Papers

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Lessel I et al.

American Journal of Human Genetics, 2025

39798569 (PubMed )
Supplement: mmc1.pdf

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.

Zhao X et al.

Frontiers in Pediatrics, 2022

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