ABCB4 c.2561G>A ;(p.W854*)

Variant ID: 7-87046749-C-T

NM_000443.3(ABCB4):c.2561G>A;(p.W854*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Scientific Reports
Dixon, Peter H PH; Sambrotta, Melissa M; Chambers, Jennifer J; Taylor-Harris, Pamela P; Syngelaki, Argyro A; Nicolaides, Kypros K; Knisely, A S AS; Thompson, Richard J RJ; Williamson, Catherine C
Publication Date: 2017-09-18

Variant appearance in text: ABCB4: 2561G>A
PubMed Link: 28924228
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11626.pdf
View BVdb publication page