Varaico: Literature-Extracted Genetic Variants

Gene:GTF2I
Variant:p.Q3insFs
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GTF2I

NM_032999.4:p.Q3insFs

Associated Papers

Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.

Adams JW et al.

Cell Reports, 2024

The contribution of GTF2I haploinsufficiency to Williams syndrome.

Chailangkarn T et al.

Molecular and Cellular Probes, 2018

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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."