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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCL11B

Variant:p.S817fs

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BCL11B

NM_138576.4:p.S817fs

hg38:chr14:99174387 GCT>N

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 )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."