MRVI1 c.225+4344A>G

Variant ID: 11-10669228-T-C

NM_130385.3(MRVI1):c.225+4344A>G

This variant was identified in 12 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: rs7940646
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement.

Neurology. Genetics
Daghals, Iyas I; Sargurupremraj, Muralidharan M; Danning, Rebecca R; Gormley, Padhraig P; Malik, Rainer R; Amouyel, Philippe P; Metso, Tiina T; Pezzini, Alessandro A; Kurth, Tobias T; Debette, Stéphanie S; Chasman, Daniel D
Publication Date: 2022-02

Variant appearance in text: rs7940646
PubMed Link: 35128049
Variant Present in the following documents:
  • Main text
  • NG2021017260.pdf
View BVdb publication page



Genome sequencing unveils a regulatory landscape of platelet reactivity.

Nature Communications
Keramati, Ali R AR; Chen, Ming-Huei MH; Rodriguez, Benjamin A T BAT; Yanek, Lisa R LR; Bhan, Arunoday A; Gaynor, Brady J BJ; Ryan, Kathleen K; Brody, Jennifer A JA; Zhong, Xue X; Wei, Qiang Q; , ; Kammers, Kai K; Kanchan, Kanika K; Iyer, Kruthika K; Kowalski, Madeline H MH; Pitsillides, Achilleas N AN; Cupples, L Adrienne LA; Li, Bingshan B; Schlaeger, Thorsten M TM; Shuldiner, Alan R AR; O'Connell, Jeffrey R JR; Ruczinski, Ingo I; Mitchell, Braxton D BD; Faraday, Nauder N; Taub, Margaret A MA; Becker, Lewis C LC; Lewis, Joshua P JP; Mathias, Rasika A RA; Johnson, Andrew D AD
Publication Date: 2021-06-15

Variant appearance in text: rs7940646
PubMed Link: 34131117
Variant Present in the following documents:
  • 41467_2021_23470_MOESM1_ESM.pdf
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Lymphangiogenic therapy prevents cardiac dysfunction by ameliorating inflammation and hypertension.

Elife
Song, LouJin L; Chen, Xian X; Swanson, Terri A TA; LaViolette, Brianna B; Pang, Jincheng J; Cunio, Teresa T; Nagle, Michael W MW; Asano, Shoh S; Hales, Katherine K; Shipstone, Arun A; Sobon, Hanna H; Al-Harthy, Sabra D SD; Ahn, Youngwook Y; Kreuser, Steven S; Robertson, Andrew A; Ritenour, Casey C; Voigt, Frank F; Boucher, Magalie M; Sun, Furong F; Sessa, William C WC; Roth Flach, Rachel J RJ
Publication Date: 2020-11-17

Variant appearance in text: rs7940646
PubMed Link: 33200983
Variant Present in the following documents:
  • Main text
  • elife-58376.pdf
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Polymorphisms in GP6, PEAR1A, MRVI1, PIK3CG, JMJD1C, and SHH Genes in Patients with Unstable Angina.

International Journal Of Environmental Research And Public Health
Rudzik, Rafał R; Dziedziejko, Violetta V; Rać, Monika Ewa ME; Sawczuk, Marek M; Maciejewska-Skrendo, Agnieszka A; Safranow, Krzysztof K; Pawlik, Andrzej A
Publication Date: 2020-10-15

Variant appearance in text: rs7940646
PubMed Link: 33076381
Variant Present in the following documents:
  • Main text
  • ijerph-17-07506.pdf
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs7940646
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs7940646
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Plos One
Santoro, Claudia C; Giugliano, Teresa T; Kraemer, Markus M; Torella, Annalaura A; Schwitalla, Jan Claudius JC; Cirillo, Mario M; Melis, Daniela D; Berlit, Peter P; Nigro, Vincenzo V; Perrotta, Silverio S; Piluso, Giulio G
Publication Date: 2018

Variant appearance in text: rs7940646
PubMed Link: 30001348
Variant Present in the following documents:
  • Main text
  • pone.0200446.pdf
View BVdb publication page



Association of Genetic Variability in Selected Genes in Patients With Deep Vein Thrombosis and Platelet Hyperaggregability.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Sokol, Juraj J; Skerenova, Maria M; Ivankova, Jela J; Simurda, Tomas T; Stasko, Jan J
Publication Date: 2018-10

Variant appearance in text: rs7940646
PubMed Link: 29865896
Variant Present in the following documents:
  • Main text
  • 10.1177_1076029618779136.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs7940646
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-12.pdf
View BVdb publication page



Linking disease associations with regulatory information in the human genome.

Genome Research
Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M
Publication Date: 2012-09

Variant appearance in text: rs7940646
PubMed Link: 22955986
Variant Present in the following documents:
  • 1748.pdf
View BVdb publication page



Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.

Nature Genetics
Johnson, Andrew D AD; Yanek, Lisa R LR; Chen, Ming-Huei MH; Faraday, Nauder N; Larson, Martin G MG; Tofler, Geoffrey G; Lin, Shiow J SJ; Kraja, Aldi T AT; Province, Michael A MA; Yang, Qiong Q; Becker, Diane M DM; O'Donnell, Christopher J CJ; Becker, Lewis C LC
Publication Date: 2010-07

Variant appearance in text: rs7940646
PubMed Link: 20526338
Variant Present in the following documents:
  • Main text
  • NIHMS204741-supplement-1.pdf
  • nihms204741.pdf
View BVdb publication page