Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.I711V
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STAT3

NM_139276.3:p.I711V

Associated Papers

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › -3_position

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

34137790 (PubMed )
Supplement: JEM_20202592_TableS3.xlsx › Table_S2

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN et al.

Plos One, 2014

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