Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.S369P
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ELF4

NM_001421.4:p.S369P

Associated Papers

Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation.

Tian C et al.

Mucosal Immunology, 2025

Current understanding of ELF4 deficiency: a novel inborn error of immunity.

Du HQ et al.

World Journal of Pediatrics : Wjp, 2024

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

Olyha SJ et al.

Journal of Clinical Immunology, 2024

A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.

Sun G et al.

Journal of Clinical Immunology, 2023

An ELF4 hypomorphic variant results in NK cell deficiency.

Salinas SA et al.

Jci Insight, 2022

Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency.

Stewart DM et al.

Current Opinion in Allergy and Clinical Immunology, 2005

Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency.

Stewart DM et al.

Journal of Immunology (baltimore, Md. : 1950), 1995

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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."