Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Zhong-Die Li Kuerbanjiang Abuduxikuer Li Wang Chen-Zhi Hao Jing Zhang Meng-Xuan Wang Li-Ting Li Yi-Ling Qiu Xin-Bao Xie Yi Lu Jian-She Wang

Published in: Liver international : official journal of the International Association for the Study of the Liver (2022)

When NOTCH2 variants are absent in gnomAD, null variants and missense variants which were predicted to be pathogenic by at least three in-silico tools could be considered pathogenic in patients with high GGT chronic liver diseases.

Keyphrases

copy number
end stage renal disease
newly diagnosed
cell proliferation
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
escherichia coli
intellectual disability
genome wide
patient reported outcomes
pseudomonas aeruginosa
cystic fibrosis
drug induced