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Author

Rashid Ahmed

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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

Purpose: Despite advancements in genetic testing, a significant number of patients with retinal dystrophy receive negative test results due to single-allele mutations in genes with autosomal recessive inheritance patterns. This study aimed to address this diagnostic challenge by proposing a preliminary mathematical mod...

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

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