ABCB4 c.1560+6G>A

Variant ID: 7-87069509-C-T

NM_000443.3(ABCB4):c.1560+6G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Hepatology (Baltimore, Md.)
Qiu, Yi-Ling YL; Gong, Jing-Yu JY; Feng, Jia-Yan JY; Wang, Ren-Xue RX; Han, Jun J; Liu, Teng T; Lu, Yi Y; Li, Li-Ting LT; Zhang, Mei-Hong MH; Sheps, Jonathan A JA; Wang, Neng-Li NL; Yan, Yan-Yan YY; Li, Jia-Qi JQ; Chen, Lian L; Borchers, Christoph H CH; Sipos, Bence B; Knisely, A S AS; Ling, Victor V; Xing, Qing-He QH; Wang, Jian-She JS
Publication Date: 2017-05

Variant appearance in text: ABCB4: 1560+6G>A; rs200043060
PubMed Link: 28027573
Variant Present in the following documents:
  • HEP-65-1655-s001.pdf
View BVdb publication page