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Fig 1
Schematic of the methodology applied to identify candidate genes.
The results of ES performed on 70 patients were screened according to a series of criteria. 10226 rare variants were screened out. Among them, 776 LOF variants were selected for further analysis. 39 genes were identified from LOF variants for function and homology analysis. Finally, TRIP11, DNHD1, CFAP74, and EGR4 were selected as candidate genes for further study.
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