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. 2014 Oct 23;3(1):59–68. doi: 10.1002/mgg3.115

Table 3.

Identification of candidate genes by whole exome sequencing

Patient I
Patient II
Variants Genes Variants Genes
Total 124,631 15,978 129,098 16,015
Genes encoding mitochondrial protein 1698 671 1882 681
Allele frequency <3% 98 94 100 86
Predicted deleterious 32 27 18 18
Recessive pattern of inheritance 1 1 2 1