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Author

Andrea Bernini

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Open access Aug 2026

Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants

A preliminary mathematical model is proposed that can identify unique digenic or oligogenic combinations of involved genes, suggesting possible new digenic or oligogenic inheritance patterns in patients with retinal dystrophies and previous negative genetic test results.

M. Medori, A. Macchia, P. Maltese et al. · 0 citations

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