JAG1

Publications

Gilbert MA et al. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mut. 2019; 40(12):2197-2220. PMID: 31343788.

Kohut TJ et al. Alagille syndrome: a focused review on clinical features, genetics, and treatment. Sem. Liv. Dis. 2021; 41(4):525-537. PMID: 34215014.