Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.E91fs
Back to variants list

BCL11A

NM_022893.4:p.E91fs

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."