Publications:

De novo brain arteriovenous malformation formation and development: A case report.

World Journal Of Clinical Cases

Huang, Huan H; Wang, Xue X; Guo, An-Na AN; Li, Wei W; Duan, Ren-Hua RH; Fang, Jun-Hao JH; Yin, Bo B; Li, Dan-Dong DD

Publication Date: 2022-06-26

Variant appearance in text: NOTCH2: 1418A>T; Asp473Val

PubMed Link: 35949829

Variant Present in the following documents:

• WJCC-10-6277.pdf

View BVdb publication page

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: NOTCH2: Asp473Val

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197.pdf

View BVdb publication page