Varaico: Literature-Extracted Genetic Variants

Gene:GTF2I
Variant:p.R634H
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GTF2I

NM_032999.4:p.R634H

Associated Papers

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.

Pérez Jurado LA et al.

Human Molecular Genetics, 1998

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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."