Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.L495_P496delins
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IRF2BPL

NM_024496.4:p.L495_P496delins

Associated Papers

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Iwama K et al.

Journal of Human Genetics, 2025

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Miyake N et al.

European Journal of Human Genetics : Ejhg, 2024

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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."