ABCB4 c.1119+312dup

Variant ID: 7-87073865-G-GT

NM_000443.3(ABCB4):c.1119+312dup

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022

Variant appearance in text: ABCB4: 1119+312dup
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 1
View BVdb publication page