Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.R103W
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STAT3

NM_139276.3:p.R103W

Associated Papers

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

Duran JSC et al.

Biorxiv : the Preprint Server for Biology, 2024

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

38274105 (PubMed )
Supplement: DataSheet1.PDF

Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach.

Wobma H et al.

Pediatric Pulmonology, 2022

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Guevara-Hoyer K et al.

Frontiers in Immunology, 2022

35990641 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_1

STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16+ Monocytes and CD141+ Dendritic Cells.

Korenfeld D et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2c

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Maffucci P et al.

Frontiers in Immunology, 2016

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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."