Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.H156fs
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ELF4

NM_001421.4:p.H156fs

Associated Papers

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

40800195 (PubMed )
Supplement: tp-14-07-1675-supplementary.pdf

"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

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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."