Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.C324Y
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STAT1

NM_007315.4:p.C324Y

Associated Papers

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.

Buddingh EP et al.

Journal of Human Immunity, 2025

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.

Deyà-Martínez A et al.

Journal of Clinical Immunology, 2022

35486339 (PubMed )
Supplement: 10875_2022_1257_MOESM1_ESM.docx

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

Arunachalam AK et al.

Journal of Clinical Immunology, 2021

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Zhang W et al.

Frontiers in Immunology, 2021

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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."