Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.R185*
Back to variants list

ELF4

NM_001421.4:p.R185*

Associated Papers

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

Tian C et al.

Mucosal Immunology, 2025

Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review.

Zhuo L et al.

Orphanet Journal of Rare Diseases, 2025

Two novel frameshift variations in the ELF4 gene expand the mutational spectrum of DEX: case report and literature review.

Sun M et al.

Translational Pediatrics, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."