PNPLA3 c.758-53C>G

Variant ID: 22-44332878-C-G

NM_025225.2(PNPLA3):c.758-53C>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs34879941
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs34879941
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs34879941
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Molecular Genetics & Genomic Medicine
Edelman, Deborah D; Kalia, Harmit H; Delio, Maria M; Alani, Mustafa M; Krishnamurthy, Karthik K; Abd, Mortadha M; Auton, Adam A; Wang, Tao T; Wolkoff, Allan W AW; Morrow, Bernice E BE
Publication Date: 2015-11

Variant appearance in text: rs34879941
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
  • MGG3-3-558.pdf
View BVdb publication page