Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.V211_S215delFs
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BCL11A

NM_022893.4:p.V211_S215delFs

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

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
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