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: 2458+1del

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197.pdf

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Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

American Journal Of Medical Genetics. Part A

Lin, Henry C HC; Le Hoang, Phuc P; Hutchinson, Anne A; Chao, Grace G; Gerfen, Jennifer J; Loomes, Kathleen M KM; Krantz, Ian I; Kamath, Binita M BM; Spinner, Nancy B NB

Publication Date: 2012-05

Variant appearance in text: JAG1: 2458+1delG

PubMed Link: 22488849

Variant Present in the following documents:

• Main text

View BVdb publication page