Publications:

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2304128

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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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: rs2304128

PubMed Link: 35788059

Variant Present in the following documents:

• gutjnl-2022-327196supp001.pdf

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GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.

Elife

Chong, Michael M; Mohammadi-Shemirani, Pedrum P; Perrot, Nicolas N; Nelson, Walter W; Morton, Robert R; Narula, Sukrit S; Lali, Ricky R; Khan, Irfan I; Khan, Mohammad M; Judge, Conor C; Machipisa, Tafadzwa T; Cawte, Nathan N; O'Donnell, Martin M; Pigeyre, Marie M; Akhabir, Loubna L; Paré, Guillaume G

Publication Date: 2022-01-13

Variant appearance in text: rs2304128

PubMed Link: 35023831

Variant Present in the following documents:

• elife-70382-supp2.xlsx, sheet 1

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Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip.

Thrombosis And Haemostasis

Gaunt, Tom R TR; Zabaneh, Delilah D; Shah, Sonia S; Guyatt, Anna A; Ladroue, Christophe C; Kumari, Meena M; Drenos, Fotios F; Shah, Tina T; Talmud, Philippa J PJ; Casas, Juan Pablo JP; Lowe, Gordon G; Rumley, Ann A; Lawlor, Debbie A DA; Kivimaki, Mika M; Whittaker, John J; Hingorani, Aroon D AD; Humphries, Steve E SE; Day, Ian N IN

Publication Date: 2013-11

Variant appearance in text: rs2304128

PubMed Link: 24178511

Variant Present in the following documents:

• Main text

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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology

Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S

Publication Date: 2011-07-26

Variant appearance in text: rs2304128

PubMed Link: 21860704

Variant Present in the following documents:

• Main text

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