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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELF4

Variant:p.D84fs

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ELF4

NM_001421.4:p.D84fs

hg38:chrX:130074139 GTC>N

Associated Papers

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

Tian C et al.

Mucosal Immunology, 2025

41005485 (PubMed )

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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."