Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.R267W
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ELF4

NM_001421.4:p.R267W

Associated Papers

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 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

[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

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