Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.T131M
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BCL11B

NM_138576.4:p.T131M

Associated Papers

Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.

Haberecker M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

35864317 (PubMed )
Supplement: 41379_2022_1133_MOESM1_ESM.pdf

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC et al.

Human Molecular Genetics, 2019

31067316 (PubMed )
Supplement: suppl_figstables_goos-etal_2019-01-28_ddz072.pdf
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