Publications:

Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome.

Frontiers In Genetics

Chen, Yiyao Y; Liu, Xueli X; Chen, Songchang S; Zhang, Junyu J; Xu, Chenming C

Publication Date: 2019

Variant appearance in text: JAG1: 2458+5G>A

PubMed Link: 32038717

Variant Present in the following documents:

• Table_2.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: JAG1: 2458+5G>A

PubMed Link: 31343788

Variant Present in the following documents:

• HUMU-40-2197.pdf

View BVdb publication page