LRRK2 c.237+1366C>G

Variant ID: 12-40620808-C-G

NM_198578.3(LRRK2):c.237+1366C>G

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.

Frontiers In Aging Neuroscience
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Fabrizio, Carlo C; Calvino, Giulia G; Megalizzi, Domenica D; Ruffo, Paola P; Toppi, Elisa E; Banaj, Nerisa N; Bassi, Andrea A; Bossù, Paola P; Caltagirone, Carlo C; Spalletta, Gianfranco G; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2022

Variant appearance in text: rs1491942
PubMed Link: 35250545
Variant Present in the following documents:
  • Main text
  • fnagi-14-821789.pdf
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Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society
Lake, Julie J; Reed, Xylena X; Langston, Rebekah G RG; Nalls, Mike A MA; Gan-Or, Ziv Z; Cookson, Mark R MR; Singleton, Andrew B AB; Blauwendraat, Cornelis C; Leonard, Hampton L HL; ,
Publication Date: 2022-01

Variant appearance in text: rs1491942
PubMed Link: 34542912
Variant Present in the following documents:
  • Main text
  • MDS-37-95.pdf
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Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: rs1491942
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
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Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease
Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O
Publication Date: 2021-02-11

Variant appearance in text: rs1491942
PubMed Link: 33574311
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_157.pdf
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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: rs1491942
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Evaluation of the Common Molecular Basis in Alzheimer's and Parkinson's Diseases.

International Journal Of Molecular Sciences
Rana, Pratip P; Franco, Edian F EF; Rao, Yug Y; Syed, Khajamoinuddin K; Barh, Debmalya D; Azevedo, Vasco V; Ramos, Rommel T J RTJ; Ghosh, Preetam P
Publication Date: 2019-07-30

Variant appearance in text: rs1491942
PubMed Link: 31366155
Variant Present in the following documents:
  • Main text
  • ijms-20-03730.pdf
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Phenome-wide association studies across large population cohorts support drug target validation.

Nature Communications
Diogo, Dorothée D; Tian, Chao C; Franklin, Christopher S CS; Alanne-Kinnunen, Mervi M; March, Michael M; Spencer, Chris C A CCA; Vangjeli, Ciara C; Weale, Michael E ME; Mattsson, Hannele H; Kilpeläinen, Elina E; Sleiman, Patrick M A PMA; Reilly, Dermot F DF; McElwee, Joshua J; Maranville, Joseph C JC; Chatterjee, Arnaub K AK; Bhandari, Aman A; Nguyen, Khanh-Dung H KH; Estrada, Karol K; Reeve, Mary-Pat MP; Hutz, Janna J; Bing, Nan N; John, Sally S; MacArthur, Daniel G DG; Salomaa, Veikko V; Ripatti, Samuli S; Hakonarson, Hakon H; Daly, Mark J MJ; Palotie, Aarno A; Hinds, David A DA; Donnelly, Peter P; Fox, Caroline S CS; Day-Williams, Aaron G AG; Plenge, Robert M RM; Runz, Heiko H
Publication Date: 2018-10-16

Variant appearance in text: rs1491942
PubMed Link: 30327483
Variant Present in the following documents:
  • 41467_2018_Article_6540.pdf
  • 41467_2018_6540_MOESM1_ESM.pdf
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Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.

Bmc Medical Genetics
Landoulsi, Zied Z; Benromdhan, Sawssan S; Ben Djebara, Mouna M; Damak, Mariem M; Dallali, Hamza H; Kefi, Rym R; Abdelhak, Sonia S; Gargouri-Berrechid, Amina A; Mhiri, Chokri C; Gouider, Riadh R
Publication Date: 2017-07-06

Variant appearance in text: rs1491942
PubMed Link: 28683740
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_432.pdf
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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science
Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR
Publication Date: 2017-02

Variant appearance in text: rs1491942
PubMed Link: 28386409
Variant Present in the following documents:
  • rsos160254supp3.xlsx, sheet 1
  • rsos160254supp3.xlsx, sheet 9
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Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Frontiers In Aging Neuroscience
Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2017

Variant appearance in text: rs1491942
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
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Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.

Neurobiology Of Aging
Wang, Lisa L; Heckman, Michael G MG; Aasly, Jan O JO; Annesi, Grazia G; Bozi, Maria M; Chung, Sun Ju SJ; Clarke, Carl C; Crosiers, David D; Eckstein, Gertrud G; Garraux, Gaetan G; Hadjigeorgiou, Georgios M GM; Hattori, Nobu N; Jeon, Beom B; Kim, Yun J YJ; Kubo, Masato M; Lesage, Suzanne S; Lin, Juei Jueng JJ; Lynch, Timothy T; Lichtner, Peter P; Mellick, George D GD; Mok, Vincent V; Morrison, Karin E KE; Quattrone, Aldo A; Satake, Wataru W; Silburn, Peter A PA; Stefanis, Leonidas L; Stockton, Joanne D JD; Tan, Eng King EK; Toda, Tatsushi T; Brice, Alexis A; Van Broeckhoven, Christine C; Uitti, Ryan J RJ; Wirdefeldt, Karin K; Wszolek, Zbigniew Z; Xiromerisiou, Georgia G; Maraganore, Demetrius M DM; Gasser, Thomas T; Krüger, Rejko R; Farrer, Matthew J MJ; Ross, Owen A OA; Sharma, Manu M; ,
Publication Date: 2017-01

Variant appearance in text: rs1491942
PubMed Link: 27814993
Variant Present in the following documents:
  • Main text
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Analysis of LRRK2, SNCA, and ITGA8 Gene Variants with Sporadic Parkinson's Disease Susceptibility in Chinese Han Population.

Parkinson'S Disease
Fang, Jie J; Yi, Kehui K; Guo, Mingwei M; An, Xingkai X; Qu, Hongli H; Lin, Qing Q; Bi, Min M; Ma, Qilin Q
Publication Date: 2016

Variant appearance in text: rs1491942
PubMed Link: 27668119
Variant Present in the following documents:
  • Main text
  • PD2016-3474751.pdf
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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One
Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F
Publication Date: 2016

Variant appearance in text: rs1491942
PubMed Link: 27336301
Variant Present in the following documents:
  • pone.0158064.s002.xlsx, sheet 8
View BVdb publication page



Papillary renal cell carcinoma: a clinicopathological and whole-genome exon sequencing study.

International Journal Of Clinical And Experimental Pathology
Liu, Kunpeng K; Ren, Yuan Y; Pang, Lijuan L; Qi, Yan Y; Jia, Wei W; Tao, Lin L; Hu, Zhengyan Z; Zhao, Jin J; Zhang, Haijun H; Li, Li L; Yue, Haifeng H; Han, Juan J; Liang, Weihua W; Hu, Jianming J; Zou, Hong H; Yuan, Xianglin X; Li, Feng F
Publication Date: 2015

Variant appearance in text: rs1491942
PubMed Link: 26339402
Variant Present in the following documents:
  • Main text
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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs1491942
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
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Association of Parkinson disease risk loci with mild parkinsonian signs in older persons.

Jama Neurology
Shulman, Joshua M JM; Yu, Lei L; Buchman, Aron S AS; Evans, Denis A DA; Schneider, Julie A JA; Bennett, David A DA; De Jager, Philip L PL
Publication Date: 2014-04

Variant appearance in text: rs1491942
PubMed Link: 24514572
Variant Present in the following documents:
  • Main text
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GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

American Journal Of Neurodegenerative Disease
Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Labbé, Catherine C; Serie, Daniel J DJ; Puschmann, Andreas A; Rayaprolu, Sruti S; Strongosky, Audrey A; Boczarska-Jedynak, Magdalena M; Opala, Grzegorz G; Krygowska-Wajs, Anna A; Barcikowska, Maria M; Czyzewski, Krzysztof K; Lynch, Timothy T; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Ross, Owen A OA
Publication Date: 2013

Variant appearance in text: rs1491942
PubMed Link: 24319646
Variant Present in the following documents:
  • Main text
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The role of innate and adaptive immunity in Parkinson's disease.

Journal Of Parkinson'S Disease
Kannarkat, George T GT; Boss, Jeremy M JM; Tansey, Malú G MG
Publication Date: 2013

Variant appearance in text: rs1491942
PubMed Link: 24275605
Variant Present in the following documents:
  • Main text
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Assessment of Parkinson's disease risk loci in Greece.

Neurobiology Of Aging
Kara, Eleanna E; Xiromerisiou, Georgia G; Spanaki, Cleanthe C; Bozi, Maria M; Koutsis, Georgios G; Panas, Marios M; Dardiotis, Efthimios E; Ralli, Styliani S; Bras, Jose J; Letson, Christopher C; Edsall, Connor C; Pliner, Hannah H; Arepalli, Sampath S; Kalinderi, Kallirhoe K; Fidani, Liana L; Bostantjopoulou, Sevasti S; Keller, Margaux F MF; Wood, Nicholas W NW; Hardy, John J; Houlden, Henry H; Stefanis, Leonidas L; Plaitakis, Andreas A; Hernandez, Dena D; Hadjigeorgiou, Georgios M GM; Nalls, Mike A MA; Singleton, Andrew B AB
Publication Date: 2014-02

Variant appearance in text: rs1491942
PubMed Link: 24080174
Variant Present in the following documents:
  • Main text
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Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

Plos One
Trabzuni, Daniah D; Ryten, Mina M; Emmett, Warren W; Ramasamy, Adaikalavan A; Lackner, Karl J KJ; Zeller, Tanja T; Walker, Robert R; Smith, Colin C; Lewis, Patrick A PA; Mamais, Adamantios A; de Silva, Rohan R; Vandrovcova, Jana J; , ; Hernandez, Dena D; Nalls, Michael A MA; Sharma, Manu M; Garnier, Sophie S; Lesage, Suzanne S; Simon-Sanchez, Javier J; Gasser, Thomas T; Heutink, Peter P; Brice, Alexis A; Singleton, Andrew A; Cai, Huaibin H; Schadt, Eric E; Wood, Nicholas W NW; Bandopadhyay, Rina R; Weale, Michael E ME; Hardy, John J; Plagnol, Vincent V
Publication Date: 2013

Variant appearance in text: rs1491942
PubMed Link: 23967090
Variant Present in the following documents:
  • Main text
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Genetic analysis in neurology: the next 10 years.

Jama Neurology
Pittman, Alan A; Hardy, John J
Publication Date: 2013-06

Variant appearance in text: rs1491942
PubMed Link: 23571731
Variant Present in the following documents:
  • Main text
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A prognostic view on the application of individualized genomics in Parkinson's disease.

Current Genetic Medicine Reports
Ross, Owen A OA
Publication Date: 2013-03

Variant appearance in text: rs1491942
PubMed Link: 23504498
Variant Present in the following documents:
  • Main text
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Risk prediction for complex diseases: application to Parkinson disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hall, Taryn O TO; Wan, Jia Y JY; Mata, Ignacio F IF; Kerr, Kathleen F KF; Snapinn, Katherine W KW; Samii, Ali A; Roberts, John W JW; Agarwal, Pinky P; Zabetian, Cyrus P CP; Edwards, Karen L KL
Publication Date: 2013-05

Variant appearance in text: rs1491942
PubMed Link: 23222663
Variant Present in the following documents:
  • Main text
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Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Mata, Ignacio F IF; Checkoway, Harvey H; Hutter, Carolyn M CM; Samii, Ali A; Roberts, John W JW; Kim, Hojoong M HM; Agarwal, Pinky P; Alvarez, Victoria V; Ribacoba, Renee R; Pastor, Pau P; Lorenzo-Betancor, Oswaldo O; Infante, Jon J; Sierra, María M; Gómez-Garre, Pilar P; Mir, Pablo P; Ritz, Beate B; Rhodes, Shannon L SL; Colcher, Amy A; Van Deerlin, Vivianna V; Chung, Kathryn A KA; Quinn, Joseph F JF; Yearout, Dora D; Martinez, Erica E; Farin, Federico M FM; Wan, Jia Y JY; Edwards, Karen L KL; Zabetian, Cyrus P CP
Publication Date: 2012-12

Variant appearance in text: rs1491942
PubMed Link: 23115130
Variant Present in the following documents:
  • Main text
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Genome wide assessment of young onset Parkinson's disease from Finland.

Plos One
Hernandez, Dena G DG; Nalls, Michael A MA; Ylikotila, Pauli P; Keller, Margaux M; Hardy, John A JA; Majamaa, Kari K; Singleton, Andrew B AB
Publication Date: 2012

Variant appearance in text: rs1491942
PubMed Link: 22911860
Variant Present in the following documents:
  • Main text
  • pone.0041859.pdf
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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

Human Molecular Genetics
Keller, Margaux F MF; Saad, Mohamad M; Bras, Jose J; Bettella, Francesco F; Nicolaou, Nayia N; Simón-Sánchez, Javier J; Mittag, Florian F; Büchel, Finja F; Sharma, Manu M; Gibbs, J Raphael JR; Schulte, Claudia C; Moskvina, Valentina V; Durr, Alexandra A; Holmans, Peter P; Kilarski, Laura L LL; Guerreiro, Rita R; Hernandez, Dena G DG; Brice, Alexis A; Ylikotila, Pauli P; Stefánsson, Hreinn H; Majamaa, Kari K; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nicholas W NW; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; Nalls, Michael A MA; , ; ,
Publication Date: 2012-11-15

Variant appearance in text: rs1491942
PubMed Link: 22892372
Variant Present in the following documents:
  • Main text
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Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

Plos Genetics
Lill, Christina M CM; Roehr, Johannes T JT; McQueen, Matthew B MB; Kavvoura, Fotini K FK; Bagade, Sachin S; Schjeide, Brit-Maren M BM; Schjeide, Leif M LM; Meissner, Esther E; Zauft, Ute U; Allen, Nicole C NC; Liu, Tian T; Schilling, Marcel M; Anderson, Kari J KJ; Beecham, Gary G; Berg, Daniela D; Biernacka, Joanna M JM; Brice, Alexis A; DeStefano, Anita L AL; Do, Chuong B CB; Eriksson, Nicholas N; Factor, Stewart A SA; Farrer, Matthew J MJ; Foroud, Tatiana T; Gasser, Thomas T; Hamza, Taye T; Hardy, John A JA; Heutink, Peter P; Hill-Burns, Erin M EM; Klein, Christine C; Latourelle, Jeanne C JC; Maraganore, Demetrius M DM; Martin, Eden R ER; Martinez, Maria M; Myers, Richard H RH; Nalls, Michael A MA; Pankratz, Nathan N; Payami, Haydeh H; Satake, Wataru W; Scott, William K WK; Sharma, Manu M; Singleton, Andrew B AB; Stefansson, Kari K; Toda, Tatsushi T; Tung, Joyce Y JY; Vance, Jeffery J; Wood, Nick W NW; Zabetian, Cyrus P CP; , ; , ; , ; , ; Young, Peter P; Tanzi, Rudolph E RE; Khoury, Muin J MJ; Zipp, Frauke F; Lehrach, Hans H; Ioannidis, John P A JP; Bertram, Lars L
Publication Date: 2012

Variant appearance in text: rs1491942
PubMed Link: 22438815
Variant Present in the following documents:
  • Main text
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No association between Parkinson disease alleles and the risk of melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Meng, Shasha S; Song, Fengju F; Chen, Honglei H; Gao, Xiang X; Amos, Christopher I CI; Lee, Jeffrey E JE; Wei, Qingyi Q; Qureshi, Abrar A AA; Han, Jiali J
Publication Date: 2012-01

Variant appearance in text: rs1491942
PubMed Link: 22086882
Variant Present in the following documents:
  • Main text
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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Plos Genetics
Do, Chuong B CB; Tung, Joyce Y JY; Dorfman, Elizabeth E; Kiefer, Amy K AK; Drabant, Emily M EM; Francke, Uta U; Mountain, Joanna L JL; Goldman, Samuel M SM; Tanner, Caroline M CM; Langston, J William JW; Wojcicki, Anne A; Eriksson, Nicholas N
Publication Date: 2011-06

Variant appearance in text: rs1491942
PubMed Link: 21738487
Variant Present in the following documents:
  • Main text
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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Nature Genetics
Höglinger, Günter U GU; Melhem, Nadine M NM; Dickson, Dennis W DW; Sleiman, Patrick M A PM; Wang, Li-San LS; Klei, Lambertus L; Rademakers, Rosa R; de Silva, Rohan R; Litvan, Irene I; Riley, David E DE; van Swieten, John C JC; Heutink, Peter P; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Vandrovcova, Jana J; Hurtig, Howard I HI; Gross, Rachel G RG; Maetzler, Walter W; Goldwurm, Stefano S; Tolosa, Eduardo E; Borroni, Barbara B; Pastor, Pau P; , ; Cantwell, Laura B LB; Han, Mi Ryung MR; Dillman, Allissa A; van der Brug, Marcel P MP; Gibbs, J Raphael JR; Cookson, Mark R MR; Hernandez, Dena G DG; Singleton, Andrew B AB; Farrer, Matthew J MJ; Yu, Chang-En CE; Golbe, Lawrence I LI; Revesz, Tamas T; Hardy, John J; Lees, Andrew J AJ; Devlin, Bernie B; Hakonarson, Hakon H; Müller, Ulrich U; Schellenberg, Gerard D GD
Publication Date: 2011-06-19

Variant appearance in text: rs1491942
PubMed Link: 21685912
Variant Present in the following documents:
  • NIHMS297077-supplement-1.pdf
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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

Lancet (London, England)
, ; Nalls, Michael A MA; Plagnol, Vincent V; Hernandez, Dena G DG; Sharma, Manu M; Sheerin, Una-Marie UM; Saad, Mohamad M; Simón-Sánchez, J J; Schulte, Claudia C; Lesage, Suzanne S; Sveinbjörnsdóttir, Sigurlaug S; Stefánsson, Kári K; Martinez, Maria M; Hardy, John J; Heutink, Peter P; Brice, Alexis A; Gasser, Thomas T; Singleton, Andrew B AB; Wood, Nicholas W NW
Publication Date: 2011-02-19

Variant appearance in text: rs1491942
PubMed Link: 21292315
Variant Present in the following documents:
  • Main text
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