Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.D83Splc
Back to variants list

ELF4

NM_001421.4:p.D83Splc

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 cases of deficiency in ELF4 gene X-linked and literature review].

Zhou Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

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."