Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis

Familial Co-segregation and the Emerging Role of Long-Read Sequencing to Re-Classify Variants of Uncertain Significance in Inherited Retinal Diseases

Science in Seattle, 15 Aug 2023

Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive…