Publications:

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCB4: 2210C>T; Ala737Val; rs147134978

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: ABCB4: A737V; rs147134978

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

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Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.

Scientific Reports

Park, Hyo Jin HJ; Kim, Tae Hee TH; Kim, So Won SW; Noh, Shin Hye SH; Cho, Kyeong Jee KJ; Choi, Choe C; Kwon, Eun Young EY; Choi, Yang Ji YJ; Gee, Heon Yung HY; Choi, Ji Ha JH

Publication Date: 2016-06-03

Variant appearance in text: ABCB4: A737V

PubMed Link: 27256251

Variant Present in the following documents:

• Main text
• srep26872.pdf
• srep26872-s1.pdf

View BVdb publication page