Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G630fs
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BCL11B

NM_138576.4:p.G630fs

Associated Papers

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

BCL11B-related disease: a single phenotypic entity?

Vedovato-Dos-Santos JH et al.

European Journal of Human Genetics : Ejhg, 2025

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

Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities - a Case Report.

Roa-Bautista A et al.

Ejifcc, 2022

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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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."