Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.P19L
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BCL11A

NM_022893.4:p.P19L

Associated Papers

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

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Korenke GC et al.

Molecular Syndromology, 2020

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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