CR1 c.7457+175A>C

Variant ID: 1-207804141-A-C

NM_000651.4(CR1):c.7457+175A>C

This variant was identified in 31 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: rs1408077
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer's disease.

Bmc Medical Genetics
Zhu, Xi-Chen XC; Dai, Wen-Zhuo WZ; Ma, Tao T
Publication Date: 2020-09-12

Variant appearance in text: rs1408077
PubMed Link: 32919460
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1114.pdf
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A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.

Molecular Genetics & Genomic Medicine
Soyal, Selma M SM; Kwik, Markus M; Kalev, Ognian O; Lenz, Stefan S; Zara, Greta G; Strasser, Peter P; Patsch, Wolfgang W; Weis, Serge S
Publication Date: 2020-08

Variant appearance in text: rs1408077
PubMed Link: 32472747
Variant Present in the following documents:
  • Main text
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Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.

Neurobiology Of Aging
Katsumata, Yuriko Y; Nelson, Peter T PT; Estus, Steven S; , ; Fardo, David W DW
Publication Date: 2019-02

Variant appearance in text: rs1408077
PubMed Link: 30448613
Variant Present in the following documents:
  • Main text
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CR1: 7457+175A>C; rs1408077
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.

Human Genetics
Kucukkilic, Ezgi E; Brookes, Keeley K; Barber, Imelda I; Guetta-Baranes, Tamar T; , ; Morgan, Kevin K; Hollox, Edward J EJ
Publication Date: 2018-04

Variant appearance in text: rs1408077
PubMed Link: 29675612
Variant Present in the following documents:
  • Main text
  • 439_2018_Article_1883.pdf
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Associations of the Top 20 Alzheimer Disease Risk Variants With Brain Amyloidosis.

Jama Neurology
Apostolova, Liana G LG; Risacher, Shannon L SL; Duran, Tugce T; Stage, Eddie C EC; Goukasian, Naira N; West, John D JD; Do, Triet M TM; Grotts, Jonathan J; Wilhalme, Holly H; Nho, Kwangsik K; Phillips, Meredith M; Elashoff, David D; Saykin, Andrew J AJ; ,
Publication Date: 2018-03-01

Variant appearance in text: rs1408077
PubMed Link: 29340569
Variant Present in the following documents:
  • Main text
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Unraveling the genes implicated in Alzheimer's disease.

Biomedical Reports
Giri, Mohan M; Shah, Abhilasha A; Upreti, Bibhuti B; Rai, Jayanti Chamling JC
Publication Date: 2017-08

Variant appearance in text: rs1408077
PubMed Link: 28781776
Variant Present in the following documents:
  • Main text
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1408077
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Bayesian longitudinal low-rank regression models for imaging genetic data from longitudinal studies.

Neuroimage
Lu, Zhao-Hua ZH; Khondker, Zakaria Z; Ibrahim, Joseph G JG; Wang, Yue Y; Zhu, Hongtu H; ,
Publication Date: 2017-04-01

Variant appearance in text: rs1408077
PubMed Link: 28143775
Variant Present in the following documents:
  • Main text
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The effect of the top 20 Alzheimer disease risk genes on gray-matter density and FDG PET brain metabolism.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Stage, Eddie E; Duran, Tugce T; Risacher, Shannon L SL; Goukasian, Naira N; Do, Triet M TM; West, John D JD; Wilhalme, Holly H; Nho, Kwangsik K; Phillips, Meredith M; Elashoff, David D; Saykin, Andrew J AJ; Apostolova, Liana G LG
Publication Date: 2016

Variant appearance in text: rs1408077
PubMed Link: 28054028
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genes associated with Alzheimer's disease: an overview and current status.

Clinical Interventions In Aging
Giri, Mohan M; Zhang, Man M; Lü, Yang Y
Publication Date: 2016

Variant appearance in text: rs1408077
PubMed Link: 27274215
Variant Present in the following documents:
  • Main text
  • cia-11-665.pdf
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Alzheimer risk genes modulate the relationship between plasma apoE and cortical PiB binding.

Neurology. Genetics
Lazaris, Andreas A; Hwang, Kristy S KS; Goukasian, Naira N; Ramirez, Leslie M LM; Eastman, Jennifer J; Blanken, Anna E AE; Teng, Edmond E; Gylys, Karen K; Cole, Greg G; Saykin, Andrew J AJ; Shaw, Leslie M LM; Trojanowski, John Q JQ; Jagust, William J WJ; Weiner, Michael W MW; Apostolova, Liana G LG; ,
Publication Date: 2015-10

Variant appearance in text: rs1408077
PubMed Link: 27066559
Variant Present in the following documents:
  • Main text
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Late-onset Alzheimer disease risk variants mark brain regulatory loci.

Neurology. Genetics
Allen, Mariet M; Kachadoorian, Michaela M; Carrasquillo, Minerva M MM; Karhade, Aditya A; Manly, Lester L; Burgess, Jeremy D JD; Wang, Chen C; Serie, Daniel D; Wang, Xue X; Siuda, Joanna J; Zou, Fanggeng F; Chai, High Seng HS; Younkin, Curtis C; Crook, Julia J; Medway, Christopher C; Nguyen, Thuy T; Ma, Li L; Malphrus, Kimberly K; Lincoln, Sarah S; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Asmann, Yan W YW; Dickson, Dennis W DW; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N
Publication Date: 2015-08

Variant appearance in text: rs1408077
PubMed Link: 27066552
Variant Present in the following documents:
  • Main text
  • NG2015000281.pdf
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Structural Neuroimaging Genetics Interactions in Alzheimer's Disease.

Journal Of Alzheimer'S Disease : Jad
Moon, Seok Woo SW; Dinov, Ivo D ID; Kim, Jaebum J; Zamanyan, Alen A; Hobel, Sam S; Thompson, Paul M PM; Toga, Arthur W AW
Publication Date: 2015

Variant appearance in text: rs1408077
PubMed Link: 26444770
Variant Present in the following documents:
  • Main text
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Panel of Genetic Variations as a Potential Non-invasive Biomarker for Early Diagnosis of Alzheimer's Disease.

Clinical Psychopharmacology And Neuroscience : The Official Scientific Journal Of The Korean College Of Neuropsychopharmacology
Ma, Suk Ling SL; Lam, Linda Chiu Wa LC
Publication Date: 2011-08

Variant appearance in text: rs1408077
PubMed Link: 23429712
Variant Present in the following documents:
  • Main text
  • cpn-9-54.pdf
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Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Annals Of Human Genetics
Holton, Patrick P; Ryten, Mina M; Nalls, Michael M; Trabzuni, Daniah D; Weale, Michael E ME; Hernandez, Dena D; Crehan, Helen H; Gibbs, J Raphael JR; Mayeux, Richard R; Haines, Jonathan L JL; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; , ; Ramirez-Restrepo, Manuel M; Engel, Anzhelika A; Myers, Amanda J AJ; Corneveaux, Jason J JJ; Huentelman, Matthew J MJ; Dillman, Allissa A; Cookson, Mark R MR; Reiman, Eric M EM; Singleton, Andrew A; Hardy, John J; Guerreiro, Rita R
Publication Date: 2013-03

Variant appearance in text: rs1408077
PubMed Link: 23360175
Variant Present in the following documents:
  • Main text
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Germline variation in complement genes and event-free survival in follicular and diffuse large B-cell lymphoma.

American Journal Of Hematology
Charbonneau, Bridget B; Maurer, Matthew J MJ; Fredericksen, Zachary S ZS; Zent, Clive S CS; Link, Brian K BK; Novak, Anne J AJ; Ansell, Stephen M SM; Weiner, George J GJ; Wang, Alice H AH; Witzig, Thomas E TE; Dogan, Ahmet A; Slager, Susan L SL; Habermann, Thomas M TM; Cerhan, James R JR
Publication Date: 2012-09

Variant appearance in text: rs1408077
PubMed Link: 22718493
Variant Present in the following documents:
  • Main text
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A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline.

Human Molecular Genetics
Keenan, Brendan T BT; Shulman, Joshua M JM; Chibnik, Lori B LB; Raj, Towfique T; Tran, Dong D; Sabuncu, Mert R MR; , ; Allen, April N AN; Corneveaux, Jason J JJ; Hardy, John A JA; Huentelman, Matthew J MJ; Lemere, Cynthia A CA; Myers, Amanda J AJ; Nicholson-Weller, Anne A; Reiman, Eric M EM; Evans, Denis A DA; Bennett, David A DA; De Jager, Philip L PL
Publication Date: 2012-05-15

Variant appearance in text: rs1408077
PubMed Link: 22343410
Variant Present in the following documents:
  • Main text
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The Alzheimer's Disease Neuroimaging Initiative: a review of papers published since its inception.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Weiner, Michael W MW; Veitch, Dallas P DP; Aisen, Paul S PS; Beckett, Laurel A LA; Cairns, Nigel J NJ; Green, Robert C RC; Harvey, Danielle D; Jack, Clifford R CR; Jagust, William W; Liu, Enchi E; Morris, John C JC; Petersen, Ronald C RC; Saykin, Andrew J AJ; Schmidt, Mark E ME; Shaw, Leslie L; Siuciak, Judith A JA; Soares, Holly H; Toga, Arthur W AW; Trojanowski, John Q JQ; ,
Publication Date: 2012-02

Variant appearance in text: rs1408077
PubMed Link: 22047634
Variant Present in the following documents:
  • Main text
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Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Braskie, Meredith N MN; Ringman, John M JM; Thompson, Paul M PM
Publication Date: 2011-03-31

Variant appearance in text: rs1408077
PubMed Link: 21547229
Variant Present in the following documents:
  • Main text
  • IJAD2011-490140.pdf
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CLU, CR1 and PICALM genes associate with Alzheimer's-related senile plaques.

Alzheimer'S Research & Therapy
Kok, Eloise H EH; Luoto, Teemu T; Haikonen, Satu S; Goebeler, Sirkka S; Haapasalo, Hannu H; Karhunen, Pekka J PJ
Publication Date: 2011-04-05

Variant appearance in text: rs1408077
PubMed Link: 21466683
Variant Present in the following documents:
  • Main text
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Using CSF biomarkers to replicate genetic associations in Alzheimer's disease.

Neurobiology Of Aging
Schott, Jonathan M JM; ,
Publication Date: 2012-07

Variant appearance in text: rs1408077
PubMed Link: 21459483
Variant Present in the following documents:
  • Main text
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Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites.

Molecular Psychiatry
Brouwers, N N; Van Cauwenberghe, C C; Engelborghs, S S; Lambert, J-C JC; Bettens, K K; Le Bastard, N N; Pasquier, F F; Montoya, A Gil AG; Peeters, K K; Mattheijssens, M M; Vandenberghe, R R; Deyn, P P De PP; Cruts, M M; Amouyel, P P; Sleegers, K K; Van Broeckhoven, C C
Publication Date: 2012-02

Variant appearance in text: rs1408077
PubMed Link: 21403675
Variant Present in the following documents:
  • Main text
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Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.

Plos Genetics
Wijsman, Ellen M EM; Pankratz, Nathan D ND; Choi, Yoonha Y; Rothstein, Joseph H JH; Faber, Kelley M KM; Cheng, Rong R; Lee, Joseph H JH; Bird, Thomas D TD; Bennett, David A DA; Diaz-Arrastia, Ramon R; Goate, Alison M AM; Farlow, Martin M; Ghetti, Bernardino B; Sweet, Robert A RA; Foroud, Tatiana M TM; Mayeux, Richard R; ,
Publication Date: 2011-02

Variant appearance in text: rs1408077
PubMed Link: 21379329
Variant Present in the following documents:
  • Main text
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Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

Plos One
Jones, Lesley L; Holmans, Peter A PA; Hamshere, Marian L ML; Harold, Denise D; Moskvina, Valentina V; Ivanov, Dobril D; Pocklington, Andrew A; Abraham, Richard R; Hollingworth, Paul P; Sims, Rebecca R; Gerrish, Amy A; Pahwa, Jaspreet Singh JS; Jones, Nicola N; Stretton, Alexandra A; Morgan, Angharad R AR; Lovestone, Simon S; Powell, John J; Proitsi, Petroula P; Lupton, Michelle K MK; Brayne, Carol C; Rubinsztein, David C DC; Gill, Michael M; Lawlor, Brian B; Lynch, Aoibhinn A; Morgan, Kevin K; Brown, Kristelle S KS; Passmore, Peter A PA; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Holmes, Clive C; Mann, David D; Smith, A David AD; Love, Seth S; Kehoe, Patrick G PG; Mead, Simon S; Fox, Nick N; Rossor, Martin M; Collinge, John J; Maier, Wolfgang W; Jessen, Frank F; Schürmann, Britta B; Heun, Reinhard R; Kölsch, Heike H; van den Bussche, Hendrik H; Heuser, Isabella I; Peters, Oliver O; Kornhuber, Johannes J; Wiltfang, Jens J; Dichgans, Martin M; Frölich, Lutz L; Hampel, Harald H; Hüll, Michael M; Rujescu, Dan D; Goate, Alison M AM; Kauwe, John S K JS; Cruchaga, Carlos C; Nowotny, Petra P; Morris, John C JC; Mayo, Kevin K; Livingston, Gill G; Bass, Nicholas J NJ; Gurling, Hugh H; McQuillin, Andrew A; Gwilliam, Rhian R; Deloukas, Panos P; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Singleton, Andrew B AB; Guerreiro, Rita R; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Jöckel, Karl-Heinz KH; Klopp, Norman N; Wichmann, H-Erich HE; Rüther, Eckhard E; Carrasquillo, Minerva M MM; Pankratz, V Shane VS; Younkin, Steven G SG; Hardy, John J; O'Donovan, Michael C MC; Owen, Michael J MJ; Williams, Julie J
Publication Date: 2010-11-15

Variant appearance in text: rs1408077
PubMed Link: 21085570
Variant Present in the following documents:
  • Main text
  • pone.0013950.pdf
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Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

Archives Of Neurology
Jun, Gyungah G; Naj, Adam C AC; Beecham, Gary W GW; Wang, Li-San LS; Buros, Jacqueline J; Gallins, Paul J PJ; Buxbaum, Joseph D JD; Ertekin-Taner, Nilufer N; Fallin, M Daniele MD; Friedland, Robert R; Inzelberg, Rivka R; Kramer, Patricia P; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; , ; Cantwell, Laura B LB; Dombroski, Beth A BA; Saykin, Andrew J AJ; Reiman, Eric M EM; Bennett, David A DA; Morris, John C JC; Lunetta, Kathryn L KL; Martin, Eden R ER; Montine, Thomas J TJ; Goate, Alison M AM; Blacker, Deborah D; Tsuang, Debby W DW; Beekly, Duane D; Cupples, L Adrienne LA; Hakonarson, Hakon H; Kukull, Walter W; Foroud, Tatiana M TM; Haines, Jonathan J; Mayeux, Richard R; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD
Publication Date: 2010-12

Variant appearance in text: rs1408077
PubMed Link: 20697030
Variant Present in the following documents:
  • Main text
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Genetic variation and neuroimaging measures in Alzheimer disease.

Archives Of Neurology
Biffi, Alessandro A; Anderson, Christopher D CD; Desikan, Rahul S RS; Sabuncu, Mert M; Cortellini, Lynelle L; Schmansky, Nick N; Salat, David D; Rosand, Jonathan J; ,
Publication Date: 2010-06

Variant appearance in text: rs1408077
PubMed Link: 20558387
Variant Present in the following documents:
  • Main text
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Genetics of Alzheimer disease in the pre- and post-GWAS era.

Alzheimer'S Research & Therapy
Ertekin-Taner, Nilüfer N
Publication Date: 2010-03-05

Variant appearance in text: rs1408077
PubMed Link: 20236449
Variant Present in the following documents:
  • Main text
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Gemcitabine and arabinosylcytosin pharmacogenomics: genome-wide association and drug response biomarkers.

Plos One
Li, Liang L; Fridley, Brooke L BL; Kalari, Krishna K; Jenkins, Gregory G; Batzler, Anthony A; Weinshilboum, Richard M RM; Wang, Liewei L
Publication Date: 2009-11-09

Variant appearance in text: rs1408077
PubMed Link: 19898621
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Nature Genetics
Harold, Denise D; Abraham, Richard R; Hollingworth, Paul P; Sims, Rebecca R; Gerrish, Amy A; Hamshere, Marian L ML; Pahwa, Jaspreet Singh JS; Moskvina, Valentina V; Dowzell, Kimberley K; Williams, Amy A; Jones, Nicola N; Thomas, Charlene C; Stretton, Alexandra A; Morgan, Angharad R AR; Lovestone, Simon S; Powell, John J; Proitsi, Petroula P; Lupton, Michelle K MK; Brayne, Carol C; Rubinsztein, David C DC; Gill, Michael M; Lawlor, Brian B; Lynch, Aoibhinn A; Morgan, Kevin K; Brown, Kristelle S KS; Passmore, Peter A PA; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Holmes, Clive C; Mann, David D; Smith, A David AD; Love, Seth S; Kehoe, Patrick G PG; Hardy, John J; Mead, Simon S; Fox, Nick N; Rossor, Martin M; Collinge, John J; Maier, Wolfgang W; Jessen, Frank F; Schürmann, Britta B; Heun, Reinhard R; van den Bussche, Hendrik H; Heuser, Isabella I; Kornhuber, Johannes J; Wiltfang, Jens J; Dichgans, Martin M; Frölich, Lutz L; Hampel, Harald H; Hüll, Michael M; Rujescu, Dan D; Goate, Alison M AM; Kauwe, John S K JS; Cruchaga, Carlos C; Nowotny, Petra P; Morris, John C JC; Mayo, Kevin K; Sleegers, Kristel K; Bettens, Karolien K; Engelborghs, Sebastiaan S; De Deyn, Peter P PP; Van Broeckhoven, Christine C; Livingston, Gill G; Bass, Nicholas J NJ; Gurling, Hugh H; McQuillin, Andrew A; Gwilliam, Rhian R; Deloukas, Panagiotis P; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Tsolaki, Magda M; Singleton, Andrew B AB; Guerreiro, Rita R; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Jöckel, Karl-Heinz KH; Klopp, Norman N; Wichmann, H-Erich HE; Carrasquillo, Minerva M MM; Pankratz, V Shane VS; Younkin, Steven G SG; Holmans, Peter A PA; O'Donovan, Michael M; Owen, Michael J MJ; Williams, Julie J
Publication Date: 2009-10

Variant appearance in text: rs1408077
PubMed Link: 19734902
Variant Present in the following documents:
  • Main text
  • ukmss-27833.pdf
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