Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.V813_H818insFs
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BCL11B

NM_138576.4:p.V813_H818insFs

Associated Papers

BCL11B-related disease: a single phenotypic entity?

Vedovato-Dos-Santos JH et al.

European Journal of Human Genetics : Ejhg, 2025

40033098 (PubMed )
Supplement: 41431_2025_1824_MOESM3_ESM.xlsx › Sheet1

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

Lessel I et al.

American Journal of Human Genetics, 2025

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K et al.

Human Genome Variation, 2022

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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."