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: Gln291*

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197.pdf

View BVdb publication page

Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Meta Gene

Vázquez-Martínez, Edgar Ricardo ER; Varela-Fascinetto, Gustavo G; García-Delgado, Constanza C; Rodríguez-Espino, Benjamín Antonio BA; Sánchez-Boiso, Adriana A; Valencia-Mayoral, Pedro P; Heller-Rosseau, Solange S; Pelcastre-Luna, Erika Lisselly EL; Zenteno, Juan C JC; Cerbón, Marco M; Morán-Barroso, Verónica Fabiola VF

Publication Date: 2014-12

Variant appearance in text: JAG1: Gln291X

PubMed Link: 25606387

Variant Present in the following documents:

• main.pdf

View BVdb publication page