Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.P609delFs
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BCL11A

NM_022893.4:p.P609delFs

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

Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.

Zha J et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.

Cai T et al.

American Journal of Hematology, 2017

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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."