Article
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
Liver international : official journal of the International Association for the Study of the Liver - 1 Aug 2022
Li Zhong-Die, Abuduxikuer Kuerbanjiang, Wang Li, Hao Chen-Zhi, Zhang Jing, Wang Meng-Xuan, Li Li-Ting, Qiu Yi-Ling, Xie Xin-Bao, Lu Yi, Wang Jian-She
Abstract excerpt
BACKGROUND AND AIMS: Alagille syndrome (ALGS) type 2 caused by mutations in NOTCH2 has genotypic and phenotypic heterogeneity. Diagnosis in some atypical patients with isolated hepatic presentation could be missed. METHODS: Using 2087 patients with paediatric liver manifestations, NOTCH2 allele frequencies, in-silico prediction, protein domains and clinical features were analysed to define the pathogenicity of...
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