Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.A495T
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BCL11B

NM_138576.4:p.A495T

Associated Papers

Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Fareed M et al.

Frontiers in Genetics, 2021

34113375 (PubMed )
Supplement: Data_Sheet_1.pdf

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC et al.

Human Molecular Genetics, 2019

31067316 (PubMed )
Supplement: suppl_figstables_goos-etal_2019-01-28_ddz072.pdf
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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."