Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G649A
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BCL11B

NM_138576.4:p.G649A

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

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.

Qiao F et al.

Molecular Genetics & Genomic Medicine, 2019

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D et al.

Brain : a Journal of Neurology, 2018

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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."