Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.Q275H
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STAT1

NM_007315.4:p.Q275H

Associated Papers

Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.

Hennighausen L et al.

Bmc Genomics, 2025

41327031 (PubMed )
Supplement: 12864_2025_12307_MOESM4_ESM.xlsx › Fold_change

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G et al.

The Journal of Clinical Investigation, 2023

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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."