Publications:

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: YDJC: 787G>A; Ala263Thr; rs2298428

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: YDJC: A263T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance

Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P

Publication Date: 2022-10-13

Variant appearance in text: YDJC: Ala263Thr

PubMed Link: 36229065

Variant Present in the following documents:

• LSA-2022-01551_TableS16.xlsx, sheet 1

View BVdb publication page

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Mechanism and Disease Association With a Ubiquitin Conjugating E2 Enzyme: UBE2L3.

Frontiers In Immunology

Zhang, Xiaoxia X; Huo, Chengdong C; Liu, Yating Y; Su, Ruiliang R; Zhao, Yang Y; Li, Yumin Y

Publication Date: 2022

Variant appearance in text: rs2298428

PubMed Link: 35265070

Variant Present in the following documents:

• Main text
• fimmu-13-793610.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Biology

Akhtar, Mehran M; Ali, Yasir Y; Islam, Zia-Ul ZU; Arshad, Maria M; Rauf, Mamoona M; Ali, Muhammad M; Maodaa, Saleh N SN; Al-Farraj, Saleh A SA; El-Serehy, Hamed A HA; Jalil, Fazal F

Publication Date: 2021-06-04

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 34199962

Variant Present in the following documents:

• Main text
• biology-10-00501.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: YDJC: 787G>A; A263T; rs2298428

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

Journal Of Human Genetics

Cerqueira, Juliana X M JXM; Saavalainen, Päivi P; Kurppa, Kalle K; Laurikka, Pilvi P; Huhtala, Heini H; Nykter, Matti M; L E Koskinen, Lotta L; Yohannes, Dawit A DA; Kilpeläinen, Elina E; Shcherban, Anastasia A; Palotie, Aarno A; Kaukinen, Katri K; Lindfors, Katri K

Publication Date: 2021-06

Variant appearance in text: rs2298428

PubMed Link: 33446885

Variant Present in the following documents:

• Main text
• 10038_2020_888_MOESM3_ESM.xlsx, sheet 1
• 10038_2020_Article_888.pdf
• 10038_2020_888_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 5
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Understanding the genetics of systemic lupus erythematosus using Bayesian statistics and gene network analysis.

Clinical And Experimental Pediatrics

Nam, Seoung Wan SW; Lee, Kwang Seob KS; Yang, Jae Won JW; Ko, Younhee Y; Eisenhut, Michael M; Lee, Keum Hwa KH; Shin, Jae Il JI; Kronbichler, Andreas A

Publication Date: 2021-05

Variant appearance in text: rs2298428

PubMed Link: 32683804

Variant Present in the following documents:

• Main text
• cep-2020-00633.pdf

View BVdb publication page

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Age-of-onset information helps identify 76 genetic variants associated with allergic disease.

Plos Genetics

Ferreira, Manuel A R MAR; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; Lu, Yi Y; Grosche, Sarah S; Rüschendorf, Franz F; Granell, Raquel R; Brumpton, Ben M BM; Fritsche, Lars G LG; Bhatta, Laxmi L; Gabrielsen, Maiken E ME; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Emami, Nima C NC; Cavazos, Taylor B TB; Witte, John S JS; Szwajda, Agnieszka A; , ; , ; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik Ke PK; Jorgenson, Eric E; Karlsson, Robert R; Paternoster, Lavinia L; Boomsma, Dorret I DI; Almqvist, Catarina C; Lee, Young-Ae YA; Koppelman, Gerard H GH

Publication Date: 2020-06

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 32603359

Variant Present in the following documents:

• pgen.1008725.s024.xls, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study.

Genetic Testing And Molecular Biomarkers

Chairta, Paraskevi P; Psarelis, Savvas S; Michailidou, Kyriaki K; Demetriou, Christiana C; Symeonidou, Sofia S; Nicolaou, Paschalis P; Christodoulou, Kyproula K

Publication Date: 2020-05

Variant appearance in text: rs2298428

PubMed Link: 32315557

Variant Present in the following documents:

• Main text
• gtmb.2019.0255.pdf

View BVdb publication page

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An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer.

Bmc Medical Genomics

Kubota, Naoto N; Suyama, Mikita M

Publication Date: 2020-01-22

Variant appearance in text: rs2298428

PubMed Link: 31969149

Variant Present in the following documents:

• Main text
• 12920_2020_Article_662.pdf

View BVdb publication page

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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: rs2298428

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Shared genes between Alzheimer's disease and ischemic stroke.

Cns Neuroscience & Therapeutics

Wei, Chang-Juan CJ; Cui, Pan P; Li, He H; Lang, Wen-Jing WJ; Liu, Gui-You GY; Ma, Xiao-Feng XF

Publication Date: 2019-08

Variant appearance in text: rs2298428

PubMed Link: 30859738

Variant Present in the following documents:

• Main text
• CNS-25-855.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: YDJC: 787G>A; Ala263Thr; rs2298428

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease.

Acta Neuropathologica

Broce, Iris J IJ; Tan, Chin Hong CH; Fan, Chun Chieh CC; Jansen, Iris I; Savage, Jeanne E JE; Witoelar, Aree A; Wen, Natalie N; Hess, Christopher P CP; Dillon, William P WP; Glastonbury, Christine M CM; Glymour, Maria M; Yokoyama, Jennifer S JS; Elahi, Fanny M FM; Rabinovici, Gil D GD; Miller, Bruce L BL; Mormino, Elizabeth C EC; Sperling, Reisa A RA; Bennett, David A DA; McEvoy, Linda K LK; Brewer, James B JB; Feldman, Howard H HH; Hyman, Bradley T BT; Pericak-Vance, Margaret M; Haines, Jonathan L JL; Farrer, Lindsay A LA; Mayeux, Richard R; Schellenberg, Gerard D GD; Yaffe, Kristine K; Sugrue, Leo P LP; Dale, Anders M AM; Posthuma, Danielle D; Andreassen, Ole A OA; Karch, Celeste M CM; Desikan, Rahul S RS

Publication Date: 2019-02

Variant appearance in text: rs2298428

PubMed Link: 30413934

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: YDJC: 787G>A; Ala263Thr; rs2298428

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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ClusterMI: Detecting High-Order SNP Interactions Based on Clustering and Mutual Information.

International Journal Of Molecular Sciences

Cao, Xia X; Yu, Guoxian G; Liu, Jie J; Jia, Lianyin L; Wang, Jun J

Publication Date: 2018-08-02

Variant appearance in text: rs2298428

PubMed Link: 30072632

Variant Present in the following documents:

• Main text
• ijms-19-02267.pdf

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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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: rs2298428

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era.

Genome Biology

Do, Catherine C; Shearer, Alyssa A; Suzuki, Masako M; Terry, Mary Beth MB; Gelernter, Joel J; Greally, John M JM; Tycko, Benjamin B

Publication Date: 2017-06-19

Variant appearance in text: rs2298428

PubMed Link: 28629478

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1250.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: YDJC: A263T

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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The haplotype of UBE2L3 gene is associated with Hashimoto's thyroiditis in a Chinese Han population.

Bmc Endocrine Disorders

Wang, Yu Y; Zhu, Yuan-feng YF; Wang, Qiong Q; Xu, Jing J; Yan, Ni N; Xu, Jian J; Shi, Liang-feng LF; He, Shuang-tao ST; Zhang, Jin-an JA

Publication Date: 2016-04-19

Variant appearance in text: rs2298428

PubMed Link: 27094594

Variant Present in the following documents:

• Main text
• 12902_2016_Article_98.pdf

View BVdb publication page

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Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease.

Jama Neurology

Yokoyama, Jennifer S JS; Wang, Yunpeng Y; Schork, Andrew J AJ; Thompson, Wesley K WK; Karch, Celeste M CM; Cruchaga, Carlos C; McEvoy, Linda K LK; Witoelar, Aree A; Chen, Chi-Hua CH; Holland, Dominic D; Brewer, James B JB; Franke, Andre A; Dillon, William P WP; Wilson, David M DM; Mukherjee, Pratik P; Hess, Christopher P CP; Miller, Zachary Z; Bonham, Luke W LW; Shen, Jeffrey J; Rabinovici, Gil D GD; Rosen, Howard J HJ; Miller, Bruce L BL; Hyman, Bradley T BT; Schellenberg, Gerard D GD; Karlsen, Tom H TH; Andreassen, Ole A OA; Dale, Anders M AM; Desikan, Rahul S RS; ,

Publication Date: 2016-06-01

Variant appearance in text: rs2298428

PubMed Link: 27088644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Non-HLA Genes Associated with Celiac Disease and Country-Specific Differences in a Large, International Pediatric Cohort.

Plos One

Sharma, Ashok A; Liu, Xiang X; Hadley, David D; Hagopian, William W; Liu, Edwin E; Chen, Wei-Min WM; Onengut-Gumuscu, Suna S; Simell, Ville V; Rewers, Marian M; Ziegler, Anette-G AG; Lernmark, Åke Å; Simell, Olli O; Toppari, Jorma J; Krischer, Jeffrey P JP; Akolkar, Beena B; Rich, Stephen S SS; Agardh, Daniel D; She, Jin-Xiong JX; ,

Publication Date: 2016

Variant appearance in text: rs2298428

PubMed Link: 27015091

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis.

Journal Of Advanced Research

Saad, Mohamed N MN; Mabrouk, Mai S MS; Eldeib, Ayman M AM; Shaker, Olfat G OG

Publication Date: 2016-01

Variant appearance in text: rs2298428

PubMed Link: 26843965

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2298428

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: YDJC: A263T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus.

Annals Of The Rheumatic Diseases

Bowes, John J; Loehr, Sabine S; Budu-Aggrey, Ashley A; Uebe, Steffen S; Bruce, Ian N IN; Feletar, Marie M; Marzo-Ortega, Helena H; Helliwell, Philip P; Ryan, Anthony W AW; Kane, David D; Korendowych, Eleanor E; Alenius, Gerd-Marie GM; Giardina, Emiliano E; Packham, Jonathan J; McManus, Ross R; FitzGerald, Oliver O; Brown, Matthew A MA; Behrens, Frank F; Burkhardt, Harald H; McHugh, Neil N; Huffmeier, Ulrike U; Ho, Pauline P; Reis, Andre A; Barton, Anne A

Publication Date: 2015-10

Variant appearance in text: rs2298428

PubMed Link: 25923216

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus.

Arthritis Research & Therapy

Zhang, Yan Y; Wang, Yong-Fei YF; Yang, Jing J; Zhang, Jing J; Sun, Liangdan L; Hirankarn, Nattiya N; Pan, Hai-Feng HF; Lau, Chak Sing CS; Chan, Tak Mao TM; Lee, Tsz Leung TL; Leung, Alexander Moon Ho AM; Mok, Chi Chiu CC; Zhang, Lu L; Shen, Jiangshan Jane JJ; Wong, Sik Nin SN; Lee, Ka Wing KW; Ho, Marco Hok Kung MH; Lee, Pamela Pui Wah PP; Chung, Brian Hon-Yin BH; Chong, Chun Yin CY; Wong, Raymond Woon Sing RW; Mok, Mo Yin MY; Wong, Wilfred Hing Sang WH; Tong, Kwok Lung KL; Tse, Niko Kei Chiu NK; Li, Xiang-Pei XP; Avihingsanon, Yingyos Y; Rianthavorn, Pornpimol P; Deekajorndej, Thavatchai T; Suphapeetiporn, Kanya K; Shotelersuk, Vorasuk V; Ying, Shirley King Yee SK; Fung, Samuel Ka Shun SK; Lai, Wai Ming WM; Wong, Chun-Ming CM; Ng, Irene Oi Lin IO; Garcia-Barcelo, Maria-Merce MM; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Sham, Pak Chung PC; Yang, Sen S; Ye, Dong Qing DQ; Cui, Yong Y; Zhang, Xue-Jun XJ; Yang, Wanling W; Lau, Yu Lung YL

Publication Date: 2015-03-20

Variant appearance in text: YDJC: Ala263Thr; rs2298428

PubMed Link: 25880549

Variant Present in the following documents:

• Main text

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In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections.

Plos One

Mesbah-Uddin, Md M; Elango, Ramu R; Banaganapalli, Babajan B; Shaik, Noor Ahmad NA; Al-Abbasi, Fahad A FA

Publication Date: 2015

Variant appearance in text: rs2298428

PubMed Link: 25786114

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• Main text

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Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.

Nature Communications

Bowes, John J; Budu-Aggrey, Ashley A; Huffmeier, Ulrike U; Uebe, Steffen S; Steel, Kathryn K; Hebert, Harry L HL; Wallace, Chris C; Massey, Jonathan J; Bruce, Ian N IN; Bluett, James J; Feletar, Marie M; Morgan, Ann W AW; Marzo-Ortega, Helena H; Donohoe, Gary G; Morris, Derek W DW; Helliwell, Philip P; Ryan, Anthony W AW; Kane, David D; Warren, Richard B RB; Korendowych, Eleanor E; Alenius, Gerd-Marie GM; Giardina, Emiliano E; Packham, Jonathan J; McManus, Ross R; FitzGerald, Oliver O; McHugh, Neil N; Brown, Matthew A MA; Ho, Pauline P; Behrens, Frank F; Burkhardt, Harald H; Reis, Andre A; Barton, Anne A

Publication Date: 2015-02-05

Variant appearance in text: rs2298428

PubMed Link: 25651891

Variant Present in the following documents:

• Main text
• ncomms7046.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2

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Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics

Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG

Publication Date: 2014-11

Variant appearance in text: rs2298428

PubMed Link: 25305756

Variant Present in the following documents:

• NIHMS630801-supplement-1.pdf

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Association of systemic lupus erythematosus susceptibility genes with IgA nephropathy in a Chinese cohort.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Zhou, Xu-Jie XJ; Cheng, Fa-Juan FJ; Zhu, Li L; Lv, Ji-Cheng JC; Qi, Yuan-Yuan YY; Hou, Ping P; Zhang, Hong H

Publication Date: 2014-04

Variant appearance in text: rs2298428

PubMed Link: 24458077

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• Main text

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine.

Gastroenterology

Kabakchiev, Boyko B; Silverberg, Mark S MS

Publication Date: 2013-06

Variant appearance in text: rs2298428

PubMed Link: 23474282

Variant Present in the following documents:

• Main text

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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Nature Genetics

Tsoi, Lam C LC; Spain, Sarah L SL; Knight, Jo J; Ellinghaus, Eva E; Stuart, Philip E PE; Capon, Francesca F; Ding, Jun J; Li, Yanming Y; Tejasvi, Trilokraj T; Gudjonsson, Johann E JE; Kang, Hyun M HM; Allen, Michael H MH; McManus, Ross R; Novelli, Giuseppe G; Samuelsson, Lena L; Schalkwijk, Joost J; Ståhle, Mona M; Burden, A David AD; Smith, Catherine H CH; Cork, Michael J MJ; Estivill, Xavier X; Bowcock, Anne M AM; Krueger, Gerald G GG; Weger, Wolfgang W; Worthington, Jane J; Tazi-Ahnini, Rachid R; Nestle, Frank O FO; Hayday, Adrian A; Hoffmann, Per P; Winkelmann, Juliane J; Wijmenga, Cisca C; Langford, Cordelia C; Edkins, Sarah S; Andrews, Robert R; Blackburn, Hannah H; Strange, Amy A; Band, Gavin G; Pearson, Richard D RD; Vukcevic, Damjan D; Spencer, Chris C A CC; Deloukas, Panos P; Mrowietz, Ulrich U; Schreiber, Stefan S; Weidinger, Stephan S; Koks, Sulev S; Kingo, Külli K; Esko, Tonu T; Metspalu, Andres A; Lim, Henry W HW; Voorhees, John J JJ; Weichenthal, Michael M; Wichmann, H Erich HE; Chandran, Vinod V; Rosen, Cheryl F CF; Rahman, Proton P; Gladman, Dafna D DD; Griffiths, Christopher E M CE; Reis, Andre A; Kere, Juha J; , ; , ; , ; , ; Nair, Rajan P RP; Franke, Andre A; Barker, Jonathan N W N JN; Abecasis, Goncalo R GR; Elder, James T JT; Trembath, Richard C RC

Publication Date: 2012-12

Variant appearance in text: YDJC: A263T; rs2298428

PubMed Link: 23143594

Variant Present in the following documents:

• Main text
• nihms416128.pdf

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Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus.

Arthritis And Rheumatism

Ramos, Paula S PS; Williams, Adrienne H AH; Ziegler, Julie T JT; Comeau, Mary E ME; Guy, Richard T RT; Lessard, Christopher J CJ; Li, He H; Edberg, Jeffrey C JC; Zidovetzki, Raphael R; Criswell, Lindsey A LA; Gaffney, Patrick M PM; Graham, Deborah Cunninghame DC; Graham, Robert R RR; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Brown, Elizabeth E EE; Alarcón, Graciela S GS; Petri, Michelle A MA; Reveille, John D JD; McGwin, Gerald G; Vilá, Luis M LM; Ramsey-Goldman, Rosalind R; Jacob, Chaim O CO; Vyse, Timothy J TJ; Tsao, Betty P BP; Harley, John B JB; Kimberly, Robert P RP; Alarcón-Riquelme, Marta E ME; Langefeld, Carl D CD; Moser, Kathy L KL

Publication Date: 2011-07

Variant appearance in text: rs2298428

PubMed Link: 21437871

Variant Present in the following documents:

• Main text

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Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

Plos Genetics

Zhernakova, Alexandra A; Stahl, Eli A EA; Trynka, Gosia G; Raychaudhuri, Soumya S; Festen, Eleanora A EA; Franke, Lude L; Westra, Harm-Jan HJ; Fehrmann, Rudolf S N RS; Kurreeman, Fina A S FA; Thomson, Brian B; Gupta, Namrata N; Romanos, Jihane J; McManus, Ross R; Ryan, Anthony W AW; Turner, Graham G; Brouwer, Elisabeth E; Posthumus, Marcel D MD; Remmers, Elaine F EF; Tucci, Francesca F; Toes, Rene R; Grandone, Elvira E; Mazzilli, Maria Cristina MC; Rybak, Anna A; Cukrowska, Bozena B; Coenen, Marieke J H MJ; Radstake, Timothy R D J TR; van Riel, Piet L C M PL; Li, Yonghong Y; de Bakker, Paul I W PI; Gregersen, Peter K PK; Worthington, Jane J; Siminovitch, Katherine A KA; Klareskog, Lars L; Huizinga, Tom W J TW; Wijmenga, Cisca C; Plenge, Robert M RM

Publication Date: 2011-02

Variant appearance in text: rs2298428

PubMed Link: 21383967

Variant Present in the following documents:

• Main text
• pgen.1002004.pdf

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Multiple common variants for celiac disease influencing immune gene expression.

Nature Genetics

Dubois, Patrick C A PC; Trynka, Gosia G; Franke, Lude L; Hunt, Karen A KA; Romanos, Jihane J; Curtotti, Alessandra A; Zhernakova, Alexandra A; Heap, Graham A R GA; Adány, Róza R; Aromaa, Arpo A; Bardella, Maria Teresa MT; van den Berg, Leonard H LH; Bockett, Nicholas A NA; de la Concha, Emilio G EG; Dema, Bárbara B; Fehrmann, Rudolf S N RS; Fernández-Arquero, Miguel M; Fiatal, Szilvia S; Grandone, Elvira E; Green, Peter M PM; Groen, Harry J M HJ; Gwilliam, Rhian R; Houwen, Roderick H J RH; Hunt, Sarah E SE; Kaukinen, Katri K; Kelleher, Dermot D; Korponay-Szabo, Ilma I; Kurppa, Kalle K; MacMathuna, Padraic P; Mäki, Markku M; Mazzilli, Maria Cristina MC; McCann, Owen T OT; Mearin, M Luisa ML; Mein, Charles A CA; Mirza, Muddassar M MM; Mistry, Vanisha V; Mora, Barbara B; Morley, Katherine I KI; Mulder, Chris J CJ; Murray, Joseph A JA; Núñez, Concepción C; Oosterom, Elvira E; Ophoff, Roel A RA; Polanco, Isabel I; Peltonen, Leena L; Platteel, Mathieu M; Rybak, Anna A; Salomaa, Veikko V; Schweizer, Joachim J JJ; Sperandeo, Maria Pia MP; Tack, Greetje J GJ; Turner, Graham G; Veldink, Jan H JH; Verbeek, Wieke H M WH; Weersma, Rinse K RK; Wolters, Victorien M VM; Urcelay, Elena E; Cukrowska, Bozena B; Greco, Luigi L; Neuhausen, Susan L SL; McManus, Ross R; Barisani, Donatella D; Deloukas, Panos P; Barrett, Jeffrey C JC; Saavalainen, Paivi P; Wijmenga, Cisca C; van Heel, David A DA

Publication Date: 2010-04

Variant appearance in text: rs2298428

PubMed Link: 20190752

Variant Present in the following documents:

• Main text

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