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Author

Laurie A. Bailey

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Review Open access Aug 2026

Patient and Family Reported Clinical Picture of IRF2BPL-Related Disorders.

The study data support the hypothesis that IRF2BPL missense variants are associated with a less severe disease presentation and progression than participants with truncating variants.

Z. Goldstone-Joubert, Danielle M Pascual, Laurie A. Bailey et al. · 0 citations

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