Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.P422L
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BCL11B

NM_138576.4:p.P422L

Associated Papers

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

Garone G et al.

Movement Disorders Clinical Practice, 2024

Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.

García-Aznar JM et al.

Genes and Immunity, 2024

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K et al.

Human Genome Variation, 2022

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.

Zhao X et al.

Frontiers in Pediatrics, 2022

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

Gaillard L et al.

Frontiers in Pediatrics, 2021

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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."