Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.C81delFs
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BCL11B

NM_138576.4:p.C81delFs

Associated Papers

BCL11B-related disease: a single phenotypic entity?

Vedovato-Dos-Santos JH et al.

European Journal of Human Genetics : Ejhg, 2025

Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.

Rezende RC et al.

The Journal of Pediatrics, 2024

Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities.

Yang S et al.

Frontiers in Pediatrics, 2020

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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."