NPRL3 c.394-824C>T

Variant ID: 16-163598-G-A

NM_001077350.2(NPRL3):c.394-824C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Alpha globin gene copy number and incident ischemic stroke risk among Black Americans.

Medrxiv : The Preprint Server For Health Sciences
Ruhl, A Parker AP; Jeffries, Neal N; Yang, Yu Y; Brooks, Steven S; Naik, Rakhi P RP; Pecker, Lydia H LH; Mott, Bryan T BT; Winkler, Cheryl A CA; Armstrong, Nicole D ND; Zakai, Neil A NA; Gutierrez, Orlando M OM; Judd, Suzanne S; Howard, Virginia V; Howard, George G; Irvin, Marguerite R MR; Cushman, Mary M; Ackerman, Hans C HC
Publication Date: 2023-03-16

Variant appearance in text: rs11248850
PubMed Link: 36993674
Variant Present in the following documents:
  • Main text
  • nihpp-2023.03.15.23286908v2.pdf
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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: rs11248850
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Sickle cell disease in the era of precision medicine: looking to the future.

Expert Review Of Precision Medicine And Drug Development
Steinberg, Martin H MH; Kumar, Sara S; Murphy, George J GJ; Vanuytsel, Kim K
Publication Date: 2019

Variant appearance in text: rs11248850
PubMed Link: 33015364
Variant Present in the following documents:
  • Main text
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Haemolysis in sickle cell anaemia: effects of polymorphisms in α-globin gene regulatory elements.

British Journal Of Haematology
Milton, Jacqueline N JN; Shaikho, Elmutaz M EM; Steinberg, Martin H MH
Publication Date: 2019-07

Variant appearance in text: rs11248850
PubMed Link: 30854637
Variant Present in the following documents:
  • Main text
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Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Plos Genetics
Raffield, Laura M LM; Ulirsch, Jacob C JC; Naik, Rakhi P RP; Lessard, Samuel S; Handsaker, Robert E RE; Jain, Deepti D; Kang, Hyun M HM; Pankratz, Nathan N; Auer, Paul L PL; Bao, Erik L EL; Smith, Joshua D JD; Lange, Leslie A LA; Lange, Ethan M EM; Li, Yun Y; Thornton, Timothy A TA; Young, Bessie A BA; Abecasis, Goncalo R GR; Laurie, Cathy C CC; Nickerson, Deborah A DA; McCarroll, Steven A SA; Correa, Adolfo A; Wilson, James G JG; , ; Lettre, Guillaume G; Sankaran, Vijay G VG; Reiner, Alex P AP
Publication Date: 2018-03

Variant appearance in text: rs11248850
PubMed Link: 29590102
Variant Present in the following documents:
  • Main text
  • pgen.1007293.pdf
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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
Iotchkova, Valentina V; Huang, Jie J; Morris, John A JA; Jain, Deepti D; Barbieri, Caterina C; Walter, Klaudia K; Min, Josine L JL; Chen, Lu L; Astle, William W; Cocca, Massimilian M; Deelen, Patrick P; Elding, Heather H; Farmaki, Aliki-Eleni AE; Franklin, Christopher S CS; Franberg, Mattias M; Gaunt, Tom R TR; Hofman, Albert A; Jiang, Tao T; Kleber, Marcus E ME; Lachance, Genevieve G; Luan, Jian'an J; Malerba, Giovanni G; Matchan, Angela A; Mead, Daniel D; Memari, Yasin Y; Ntalla, Ioanna I; Panoutsopoulou, Kalliope K; Pazoki, Raha R; Perry, John R B JRB; Rivadeneira, Fernando F; Sabater-Lleal, Maria M; Sennblad, Bengt B; Shin, So-Youn SY; Southam, Lorraine L; Traglia, Michela M; van Dijk, Freerk F; van Leeuwen, Elisabeth M EM; Zaza, Gianluigi G; Zhang, Weihua W; , ; Amin, Najaf N; Butterworth, Adam A; Chambers, John C JC; Dedoussis, George G; Dehghan, Abbas A; Franco, Oscar H OH; Franke, Lude L; Frontini, Mattia M; Gambaro, Giovanni G; Gasparini, Paolo P; Hamsten, Anders A; Issacs, Aaron A; Kooner, Jaspal S JS; Kooperberg, Charles C; Langenberg, Claudia C; Marz, Winfried W; Scott, Robert A RA; Swertz, Morris A MA; Toniolo, Daniela D; Uitterlinden, Andre G AG; van Duijn, Cornelia M CM; Watkins, Hugh H; Zeggini, Eleftheria E; Maurano, Mathew T MT; Timpson, Nicholas J NJ; Reiner, Alexander P AP; Auer, Paul L PL; Soranzo, Nicole N
Publication Date: 2016-11

Variant appearance in text: rs11248850
PubMed Link: 27668658
Variant Present in the following documents:
  • Main text
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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

Nature Genetics
,
Publication Date: 2016-08

Variant appearance in text: rs11248850
PubMed Link: 27399967
Variant Present in the following documents:
  • NIHMS793138-supplement-1.pdf
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Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs11248850
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
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Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Plos One
Shi, Yuting Y; Wang, Junling J; Li, Jia-Da JD; Ren, Haigang H; Guan, Wenjuan W; He, Miao M; Yan, Weiqian W; Zhou, Ying Y; Hu, Zhengmao Z; Zhang, Jianguo J; Xiao, Jingjing J; Su, Zheng Z; Dai, Meizhi M; Wang, Jun J; Jiang, Hong H; Guo, Jifeng J; Zhou, Yafang Y; Zhang, Fufeng F; Li, Nan N; Du, Juan J; Xu, Qian Q; Hu, Yacen Y; Pan, Qian Q; Shen, Lu L; Wang, Guanghui G; Xia, Kun K; Zhang, Zhuohua Z; Tang, Beisha B
Publication Date: 2013

Variant appearance in text: rs11248850
PubMed Link: 24312598
Variant Present in the following documents:
  • Main text
  • pone.0081884.pdf
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Seventy-five genetic loci influencing the human red blood cell.

Nature
van der Harst, Pim P; Zhang, Weihua W; Mateo Leach, Irene I; Rendon, Augusto A; Verweij, Niek N; Sehmi, Joban J; Paul, Dirk S DS; Elling, Ulrich U; Allayee, Hooman H; Li, Xinzhong X; Radhakrishnan, Aparna A; Tan, Sian-Tsung ST; Voss, Katrin K; Weichenberger, Christian X CX; Albers, Cornelis A CA; Al-Hussani, Abtehale A; Asselbergs, Folkert W FW; Ciullo, Marina M; Danjou, Fabrice F; Dina, Christian C; Esko, Tõnu T; Evans, David M DM; Franke, Lude L; Gögele, Martin M; Hartiala, Jaana J; Hersch, Micha M; Holm, Hilma H; Hottenga, Jouke-Jan JJ; Kanoni, Stavroula S; Kleber, Marcus E ME; Lagou, Vasiliki V; Langenberg, Claudia C; Lopez, Lorna M LM; Lyytikäinen, Leo-Pekka LP; Melander, Olle O; Murgia, Federico F; Nolte, Ilja M IM; O'Reilly, Paul F PF; Padmanabhan, Sandosh S; Parsa, Afshin A; Pirastu, Nicola N; Porcu, Eleonora E; Portas, Laura L; Prokopenko, Inga I; Ried, Janina S JS; Shin, So-Youn SY; Tang, Clara S CS; Teumer, Alexander A; Traglia, Michela M; Ulivi, Sheila S; Westra, Harm-Jan HJ; Yang, Jian J; Zhao, Jing Hua JH; Anni, Franco F; Abdellaoui, Abdel A; Attwood, Antony A; Balkau, Beverley B; Bandinelli, Stefania S; Bastardot, François F; Benyamin, Beben B; Boehm, Bernhard O BO; Cookson, William O WO; Das, Debashish D; de Bakker, Paul I W PI; de Boer, Rudolf A RA; de Geus, Eco J C EJ; de Moor, Marleen H MH; Dimitriou, Maria M; Domingues, Francisco S FS; Döring, Angela A; Engström, Gunnar G; Eyjolfsson, Gudmundur Ingi GI; Ferrucci, Luigi L; Fischer, Krista K; Galanello, Renzo R; Garner, Stephen F SF; Genser, Bernd B; Gibson, Quince D QD; Girotto, Giorgia G; Gudbjartsson, Daniel Fannar DF; Harris, Sarah E SE; Hartikainen, Anna-Liisa AL; Hastie, Claire E CE; Hedblad, Bo B; Illig, Thomas T; Jolley, Jennifer J; Kähönen, Mika M; Kema, Ido P IP; Kemp, John P JP; Liang, Liming L; Lloyd-Jones, Heather H; Loos, Ruth J F RJ; Meacham, Stuart S; Medland, Sarah E SE; Meisinger, Christa C; Memari, Yasin Y; Mihailov, Evelin E; Miller, Kathy K; Moffatt, Miriam F MF; Nauck, Matthias M; Novatchkova, Maria M; Nutile, Teresa T; Olafsson, Isleifur I; Onundarson, Pall T PT; Parracciani, Debora D; Penninx, Brenda W BW; Perseu, Lucia L; Piga, Antonio A; Pistis, Giorgio G; Pouta, Anneli A; Puc, Ursula U; Raitakari, Olli O; Ring, Susan M SM; Robino, Antonietta A; Ruggiero, Daniela D; Ruokonen, Aimo A; Saint-Pierre, Aude A; Sala, Cinzia C; Salumets, Andres A; Sambrook, Jennifer J; Schepers, Hein H; Schmidt, Carsten Oliver CO; Silljé, Herman H W HH; Sladek, Rob R; Smit, Johannes H JH; Starr, John M JM; Stephens, Jonathan J; Sulem, Patrick P; Tanaka, Toshiko T; Thorsteinsdottir, Unnur U; Tragante, Vinicius V; van Gilst, Wiek H WH; van Pelt, L Joost LJ; van Veldhuisen, Dirk J DJ; Völker, Uwe U; Whitfield, John B JB; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Wirnsberger, Gerald G; Algra, Ale A; Cucca, Francesco F; d'Adamo, Adamo Pio AP; Danesh, John J; Deary, Ian J IJ; Dominiczak, Anna F AF; Elliott, Paul P; Fortina, Paolo P; Froguel, Philippe P; Gasparini, Paolo P; Greinacher, Andreas A; Hazen, Stanley L SL; Jarvelin, Marjo-Riitta MR; Khaw, Kay Tee KT; Lehtimäki, Terho T; Maerz, Winfried W; Martin, Nicholas G NG; Metspalu, Andres A; Mitchell, Braxton D BD; Montgomery, Grant W GW; Moore, Carmel C; Navis, Gerjan G; Pirastu, Mario M; Pramstaller, Peter P PP; Ramirez-Solis, Ramiro R; Schadt, Eric E; Scott, James J; Shuldiner, Alan R AR; Smith, George Davey GD; Smith, J Gustav JG; Snieder, Harold H; Sorice, Rossella R; Spector, Tim D TD; Stefansson, Kari K; Stumvoll, Michael M; Tang, W H Wilson WH; Toniolo, Daniela D; Tönjes, Anke A; Visscher, Peter M PM; Vollenweider, Peter P; Wareham, Nicholas J NJ; Wolffenbuttel, Bruce H R BH; Boomsma, Dorret I DI; Beckmann, Jacques S JS; Dedoussis, George V GV; Deloukas, Panos P; Ferreira, Manuel A MA; Sanna, Serena S; Uda, Manuela M; Hicks, Andrew A AA; Penninger, Josef Martin JM; Gieger, Christian C; Kooner, Jaspal S JS; Ouwehand, Willem H WH; Soranzo, Nicole N; Chambers, John C JC
Publication Date: 2012-12-20

Variant appearance in text: rs11248850
PubMed Link: 23222517
Variant Present in the following documents:
  • Main text
View BVdb publication page