Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.S443fs
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BCL11A

NM_022893.4:p.S443fs

Associated Papers

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

[Genetic analysis of a family with BCL11A-related intellectual disability].

Liu A et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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