APOB c.2817-1223C>A

Variant ID: 2-21244000-G-T

NM_000384.2(APOB):c.2817-1223C>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs10199768
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Influence of multiple apolipoprotein A-I and B genetic variations on insulin resistance and metabolic syndrome in obstructive sleep apnea.

Nutrition & Metabolism
Li, Xinyi X; Fu, Zhihui Z; Xu, Huajun H; Zou, Jianyin J; Zhu, Huaming H; Li, Zhiqiang Z; Su, Kaiming K; Huai, De ; Yi, Hongliang H; Guan, Jian J; Yin, Shankai S
Publication Date: 2020

Variant appearance in text: rs10199768
PubMed Link: 33005209
Variant Present in the following documents:
  • Main text
  • 12986_2020_Article_501.pdf
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A comparative encyclopedia of DNA elements in the mouse genome.

Nature
Yue, Feng F; Cheng, Yong Y; Breschi, Alessandra A; Vierstra, Jeff J; Wu, Weisheng W; Ryba, Tyrone T; Sandstrom, Richard R; Ma, Zhihai Z; Davis, Carrie C; Pope, Benjamin D BD; Shen, Yin Y; Pervouchine, Dmitri D DD; Djebali, Sarah S; Thurman, Robert E RE; Kaul, Rajinder R; Rynes, Eric E; Kirilusha, Anthony A; Marinov, Georgi K GK; Williams, Brian A BA; Trout, Diane D; Amrhein, Henry H; Fisher-Aylor, Katherine K; Antoshechkin, Igor I; DeSalvo, Gilberto G; See, Lei-Hoon LH; Fastuca, Meagan M; Drenkow, Jorg J; Zaleski, Chris C; Dobin, Alex A; Prieto, Pablo P; Lagarde, Julien J; Bussotti, Giovanni G; Tanzer, Andrea A; Denas, Olgert O; Li, Kanwei K; Bender, M A MA; Zhang, Miaohua M; Byron, Rachel R; Groudine, Mark T MT; McCleary, David D; Pham, Long L; Ye, Zhen Z; Kuan, Samantha S; Edsall, Lee L; Wu, Yi-Chieh YC; Rasmussen, Matthew D MD; Bansal, Mukul S MS; Kellis, Manolis M; Keller, Cheryl A CA; Morrissey, Christapher S CS; Mishra, Tejaswini T; Jain, Deepti D; Dogan, Nergiz N; Harris, Robert S RS; Cayting, Philip P; Kawli, Trupti T; Boyle, Alan P AP; Euskirchen, Ghia G; Kundaje, Anshul A; Lin, Shin S; Lin, Yiing Y; Jansen, Camden C; Malladi, Venkat S VS; Cline, Melissa S MS; Erickson, Drew T DT; Kirkup, Vanessa M VM; Learned, Katrina K; Sloan, Cricket A CA; Rosenbloom, Kate R KR; Lacerda de Sousa, Beatriz B; Beal, Kathryn K; Pignatelli, Miguel M; Flicek, Paul P; Lian, Jin J; Kahveci, Tamer T; Lee, Dongwon D; Kent, W James WJ; Ramalho Santos, Miguel M; Herrero, Javier J; Notredame, Cedric C; Johnson, Audra A; Vong, Shinny S; Lee, Kristen K; Bates, Daniel D; Neri, Fidencio F; Diegel, Morgan M; Canfield, Theresa T; Sabo, Peter J PJ; Wilken, Matthew S MS; Reh, Thomas A TA; Giste, Erika E; Shafer, Anthony A; Kutyavin, Tanya T; Haugen, Eric E; Dunn, Douglas D; Reynolds, Alex P AP; Neph, Shane S; Humbert, Richard R; Hansen, R Scott RS; De Bruijn, Marella M; Selleri, Licia L; Rudensky, Alexander A; Josefowicz, Steven S; Samstein, Robert R; Eichler, Evan E EE; Orkin, Stuart H SH; Levasseur, Dana D; Papayannopoulou, Thalia T; Chang, Kai-Hsin KH; Skoultchi, Arthur A; Gosh, Srikanta S; Disteche, Christine C; Treuting, Piper P; Wang, Yanli Y; Weiss, Mitchell J MJ; Blobel, Gerd A GA; Cao, Xiaoyi X; Zhong, Sheng S; Wang, Ting T; Good, Peter J PJ; Lowdon, Rebecca F RF; Adams, Leslie B LB; Zhou, Xiao-Qiao XQ; Pazin, Michael J MJ; Feingold, Elise A EA; Wold, Barbara B; Taylor, James J; Mortazavi, Ali A; Weissman, Sherman M SM; Stamatoyannopoulos, John A JA; Snyder, Michael P MP; Guigo, Roderic R; Gingeras, Thomas R TR; Gilbert, David M DM; Hardison, Ross C RC; Beer, Michael A MA; Ren, Bing B; ,
Publication Date: 2014-11-20

Variant appearance in text: rs10199768
PubMed Link: 25409824
Variant Present in the following documents:
  • Main text
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Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

Bmc Medical Genetics
Middelberg, Rita P S RP; Ferreira, Manuel A R MA; Henders, Anjali K AK; Heath, Andrew C AC; Madden, Pamela A F PA; Montgomery, Grant W GW; Martin, Nicholas G NG; Whitfield, John B JB
Publication Date: 2011-09-24

Variant appearance in text: rs10199768
PubMed Link: 21943158
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-123.pdf
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: rs10199768
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs10199768
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page