Fig. 2: Genetic characteristics. | npj Genomic Medicine

Fig. 2: Genetic characteristics.

From: Highly efficient capture approach for the identification of diverse inherited retinal disorders

Fig. 2: Genetic characteristics.

Pie chart showing the distribution of mutated gene characteristics in the 293 probands. Genotype and Inheritance are based on probands (293). Mutation characteristics and ACMG pathogenicity are variant-based such that they represent a total number of variants in the cohort of 293 probands (a total of 512 variants; homozygous variants are duplicated as alleles in the number of occurrences).

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