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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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