Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.Q341fs
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ELF4

NM_001421.4:p.Q341fs

Associated Papers

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

Tian C et al.

Mucosal Immunology, 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

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

A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.

Sun L et al.

Journal of Clinical Immunology, 2024

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