Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G648_G655delFs
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BCL11B

NM_138576.4:p.G648_G655delFs

Associated Papers

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.

Xu J et al.

Bmc Medical Genomics, 2025

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

[A case of neurodevelopmental disorder associated with BCL11B gene variant].

Zhang LM et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2025

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

Garone G et al.

Movement Disorders Clinical Practice, 2024

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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."