Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.G618A
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STAT3

NM_139276.3:p.G618A

Associated Papers

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

Jeanpierre M et al.

The Journal of Experimental Medicine, 2024

39028869 (PubMed )
Supplement: JEM_20232337_TableS4.xlsx › Table._Supp4

JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.

Atschekzei F et al.

Frontiers in Immunology, 2024

39247195 (PubMed )
Supplement: DataSheet1.pdf

Novel STAT3 variant causing infantile-onset autoimmune disease.

Pan M et al.

Frontiers in Medicine, 2023

Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.

Kaneko S et al.

Immunotherapy Advances, 2023

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

Tanaka A et al.

Experimental Dermatology, 2010

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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."