ABCB4 c.3227G>A ;(p.S1076N)

Variant ID: 7-87037405-C-T

NM_000443.3(ABCB4):c.3227G>A;(p.S1076N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

Bmc Medical Genetics
Goubran, Mariam M; Aderibigbe, Ayodeji A; Jacquemin, Emmanuel E; Guettier, Catherine C; Girgis, Safwat S; Bain, Vincent V; Mason, Andrew L AL
Publication Date: 2020-11-30

Variant appearance in text: ABCB4: 3227G>A
PubMed Link: 33256620
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1173.pdf
View BVdb publication page