Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ-glutamyltransferase.

Neng-Li WangYi-Ling QiuWen-Cai GuanGang LiYi LuMei-Hong ZhangWei-Sha LuanJian-She Wang

Published in: Hepatology research : the official journal of the Japan Society of Hepatology (2018)

We successfully identified five pathogenic synonymous or intronic variants with some common features. These features might help to choose the right variant for further functional assay.

Keyphrases

copy number
multiple sclerosis
high throughput
drug induced
genome wide