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
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
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
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
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