Varaico: Literature-Extracted Genetic Variants

Gene:GTF2IRD2
Variant:p.N514H
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GTF2IRD2

NM_173537.5:p.N514H

Associated Papers

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Tipney HJ et al.

European Journal of Human Genetics : Ejhg, 2004

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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."