The utility of hierarchical genetic testing in paediatric liver disease.
Fuchuan WangYaqi LiSen ZhaoZefu ChenZhiqiang XuLianlei WangTerry Jianguo ZhangJianguo YanLili CaoPu WangAiqin LiYan-Wei ZhongZhihong WuXiaolong QiMin ZhangNan WuPublished in: Liver international : official journal of the International Association for the Study of the Liver (2022)
Our study presents evidence for the diagnostic utility of sequential genetic testing in a cohort of patients with paediatric liver disease. Our findings expand the understanding of the phenotypic and mutational spectrum underlying this heterogeneous group of diseases.
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