Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.E485*
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BCL11A

NM_022893.4:p.E485*

Associated Papers

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Peron A et al.

European Journal of Human Genetics : Ejhg, 2025

39448799 (PubMed )
Supplement: 41431_2024_1701_MOESM2_ESM.xlsx › Supplementary_Table_1

Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report.

Shu Y et al.

Sage Open Medical Case Reports, 2025

Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.

Shen Y et al.

Plos Genetics, 2021

34634037 (PubMed )
Supplement: pgen.1009835.s006.xlsx › _Supplementary_x000a_Table_3

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.

Wessels MW et al.

Blood Advances, 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."