Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.A339delFs
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ELF4

NM_001421.4:p.A339delFs

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

Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.

Sun G et al.

Journal of Clinical Immunology, 2022

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.

Tyler PM et al.

Nature 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."