Schematic of the methodology applied to identify candidate genes.
- Sijie Liu (123139)
- Wei Wei (21173)
- Pengcheng Wang (400334)
- Chunjie Liu (3437477)
- Xuechao Jiang (641211)
- Tingting Li (10553)
- Fen Li (337013)
- Yurong Wu (2836802)
- Sun Chen (451920)
- Kun Sun (117828)
- Rang Xu (451921)
Publication date
December 2022
DOI Publisher
Public Library of Science (PLoS)Abstract
The results of ES performed on 72 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.</p
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