Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB11
Variant:p.C116S
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ZBTB11

NM_014415.4:p.C116S

Associated Papers

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

Sumathipala D et al.

Brain : a Journal of Neurology, 2022

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z et al.

Human Molecular Genetics, 2018

The Pu.1 target gene Zbtb11 regulates neutrophil development through its integrase-like HHCC zinc finger.

Keightley MC et al.

Nature Communications, 2017

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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."