Publications:

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation

Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB

Publication Date: 2019-12

Variant appearance in text: JAG1: 2372+1G>T

PubMed Link: 31343788

Variant Present in the following documents:

• HUMU-40-2197.pdf

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A case of Alagille syndrome presenting with chronic cholestasis in an adult.

Clinical And Molecular Hepatology

Kim, Jihye J; Yang, Bumhee B; Paik, Namyoung N; Choe, Yon Ho YH; Paik, Yong-Han YH

Publication Date: 2017-09

Variant appearance in text: JAG1: 2372+1G>T

PubMed Link: 28683534

Variant Present in the following documents:

• Main text
• cmh-2016-0057.pdf

View BVdb publication page