Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Genetic risk estimates for offspring of patients with Stargardt disease
Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens…·Frans P.M. Cremers
The paper estimates genetic risk for offspring of Stargardt disease patients based on ABCA4 variant severity and penetrance, finding varying risks depending on parental genotypes.
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