Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.T389S
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STAT3

NM_139276.3:p.T389S

Associated Papers

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

Schmitz EG et al.

The Journal of Allergy and Clinical Immunology, 2026

Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.

Duran JSC et al.

Biorxiv : the Preprint Server for Biology, 2024

A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice.

Schmitt EG et al.

Jci Insight, 2022

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2019

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