Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G820A
Back to variants list

BCL11B

NM_138576.4:p.G820A

Associated Papers

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.

Qiao F et al.

Molecular Genetics & Genomic Medicine, 2019

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D et al.

Brain : a Journal of Neurology, 2018

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."