Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G783fs
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BCL11B

NM_138576.4:p.G783fs

Associated Papers

A novel heterozygous mutation of BCL11B gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up.

Liu Y et al.

Neurogenetics, 2026

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

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

39798569 (PubMed )
Supplement: mmc2.xlsx › Tabelle1

BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.

Garone G et al.

Movement Disorders Clinical Practice, 2024

Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.

García-Aznar JM et al.

Genes and Immunity, 2024

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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