Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.T386M
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IRF2BPL

NM_024496.4:p.T386M

Associated Papers

Clinical characterization of IRF2BPL mutation: Case series and review of the literature.

Lou X et al.

Medicine, 2025

De novo variants of IRF2BPL result in developmental epileptic disorder.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

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