Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.S817_T819insFs
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BCL11B

NM_138576.4:p.S817_T819insFs

Associated Papers

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

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

Yang S et al.

Frontiers in Pediatrics, 2020

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."