Varaico: Literature-Extracted Genetic Variants

Gene:BCL11A
Variant:p.H792_G793insC
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BCL11A

NM_022893.4:p.H792_G793insC

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

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

Dias C et al.

American Journal of Human Genetics, 2016

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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."