Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: CDSN: Y319Y; rs1062470

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs1062470

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Allelic Variants of HLA-C Upstream Region, PSORS1C3, MICA, TNFA and Genes Involved in Epidermal Homeostasis and Barrier Function Influence the Clinical Response to Anti-IL-12/IL-23 Treatment of Patients with Psoriasis.

Vaccines

Morelli, Martina M; Galluzzo, Marco M; Scarponi, Claudia C; Madonna, Stefania S; Scaglione, Giovanni Luca GL; Girolomoni, Giampiero G; Talamonti, Marina M; Bianchi, Luca L; Albanesi, Cristina C

Publication Date: 2022-11-21

Variant appearance in text: rs1062470

PubMed Link: 36423071

Variant Present in the following documents:

• Main text
• vaccines-10-01977.pdf

View BVdb publication page

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Psoriasis: An Immunogenetic Perspective.

Global Medical Genetics

Kocaaga, Ayca A; Kocaaga, Mustafa M

Publication Date: 2022-06

Variant appearance in text: rs1062470

PubMed Link: 35707771

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1743259.pdf

View BVdb publication page

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PSORS1 Locus Genotyping Profile in Psoriasis: A Pilot Case-Control Study.

Diagnostics (Basel, Switzerland)

Tawfik, Noha Z NZ; Abdallah, Hoda Y HY; Hassan, Ranya R; Hosny, Alaa A; Ghanem, Dina E DE; Adel, Aya A; Atwa, Mona A MA

Publication Date: 2022-04-20

Variant appearance in text: rs1062470

PubMed Link: 35626191

Variant Present in the following documents:

• Main text
• diagnostics-12-01035.pdf

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12

Variant appearance in text: CDSN: Y319Y

PubMed Link: 34879060

Variant Present in the following documents:

• Main text
• pntd.0010029.pdf
• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12-08

Variant appearance in text: CDSN: Y319Y

PubMed Link: 34879060

Variant Present in the following documents:

• Main text
• pntd.0010029.pdf
• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: CDSN: Y319Y

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: CDSN: Y319Y

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4

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: CDSN: Y319Y; rs1062470

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1062470

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Transcriptome Profiling Analyses in Psoriasis: A Dynamic Contribution of Keratinocytes to the Pathogenesis.

Genes

Rioux, Geneviève G; Ridha, Zainab Z; Simard, Mélissa M; Turgeon, Florence F; Guérin, Sylvain L SL; Pouliot, Roxane R

Publication Date: 2020-09-30

Variant appearance in text: rs1062470

PubMed Link: 33007857

Variant Present in the following documents:

• Main text
• genes-11-01155.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1062470

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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: CDSN: Y319Y; rs1062470

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Paradoxical psoriasis induced by TNF-α blockade shows immunological features typical of the early phase of psoriasis development.

The Journal Of Pathology. Clinical Research

Fania, Luca L; Morelli, Martina M; Scarponi, Claudia C; Mercurio, Laura L; Scopelliti, Fernanda F; Cattani, Caterina C; Scaglione, Giovanni Luca GL; Tonanzi, Tiziano T; Pilla, Maria Antonietta MA; Pagnanelli, Gianluca G; Mazzanti, Cinzia C; Girolomoni, Giampiero G; Cavani, Andrea A; Madonna, Stefania S; Albanesi, Cristina C

Publication Date: 2020-01

Variant appearance in text: rs1062470

PubMed Link: 31577850

Variant Present in the following documents:

• Main text
• CJP2-6-55.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CDSN: 957C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs1062470

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

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: rs1062470

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CDSN: 957C>T; Y319Y; rs1062470

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.

Molecular Genetics And Genomics : Mgg

Wiśniewski, Andrzej A; Matusiak, Łukasz Ł; Szczerkowska-Dobosz, Aneta A; Nowak, Izabela I; Kuśnierczyk, Piotr P

Publication Date: 2018-08

Variant appearance in text: CDSN: Tyr319Tyr; rs1062470

PubMed Link: 29589160

Variant Present in the following documents:

• Main text
• 438_2018_Article_1435.pdf

View BVdb publication page

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Interactions within the MHC contribute to the genetic architecture of celiac disease.

Plos One

Goudey, Benjamin B; Abraham, Gad G; Kikianty, Eder E; Wang, Qiao Q; Rawlinson, Dave D; Shi, Fan F; Haviv, Izhak I; Stern, Linda L; Kowalczyk, Adam A; Inouye, Michael M

Publication Date: 2017

Variant appearance in text: rs1062470

PubMed Link: 28282431

Variant Present in the following documents:

• Main text
• pone.0172826.pdf

View BVdb publication page

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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics

Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P

Publication Date: 2016-09-15

Variant appearance in text: rs1062470

PubMed Link: 27466198

Variant Present in the following documents:

• Main text

View BVdb publication page

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The functional relevance of somatic synonymous mutations in melanoma and other cancers.

Pigment Cell & Melanoma Research

Gotea, Valer V; Gartner, Jared J JJ; Qutob, Nouar N; Elnitski, Laura L; Samuels, Yardena Y

Publication Date: 2015-11

Variant appearance in text: CDSN: 957C>T; rs1062470

PubMed Link: 26300548

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CDSN: Y319Y; rs1062470

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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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: CDSN: Y319Y; rs1062470

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: CDSN: Y319Y; rs1062470

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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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: CDSN: Y319Y; rs1062470

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Protective effect of human endogenous retrovirus K dUTPase variants on psoriasis susceptibility.

The Journal Of Investigative Dermatology

Lai, Olivia Y OY; Chen, Haoyan H; Michaud, Henri-Alexandre HA; Hayashi, Genki G; Kuebler, Peter J PJ; Hultman, Gustaf K GK; Ariza, Maria-Eugenia ME; Williams, Marshall V MV; Batista, Mariana D MD; Nixon, Douglas F DF; Foerster, John J; Bowcock, Anne M AM; Liao, Wilson W

Publication Date: 2012-07

Variant appearance in text: rs1062470

PubMed Link: 22437317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving.

Bmc Evolutionary Biology

Cagliani, Rachele R; Riva, Stefania S; Pozzoli, Uberto U; Fumagalli, Matteo M; Comi, Giacomo P GP; Bresolin, Nereo N; Clerici, Mario M; Sironi, Manuela M

Publication Date: 2011-06-17

Variant appearance in text: rs1062470

PubMed Link: 21682861

Variant Present in the following documents:

• Main text
• 1471-2148-11-171.pdf

View BVdb publication page

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Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.

Nature Genetics

de Cid, Rafael R; Riveira-Munoz, Eva E; Zeeuwen, Patrick L J M PL; Robarge, Jason J; Liao, Wilson W; Dannhauser, Emma N EN; Giardina, Emiliano E; Stuart, Philip E PE; Nair, Rajan R; Helms, Cynthia C; Escaramís, Georgia G; Ballana, Ester E; Martín-Ezquerra, Gemma G; den Heijer, Martin M; Kamsteeg, Marijke M; Joosten, Irma I; Eichler, Evan E EE; Lázaro, Conxi C; Pujol, Ramón M RM; Armengol, Lluís L; Abecasis, Gonçalo G; Elder, James T JT; Novelli, Giuseppe G; Armour, John A L JA; Kwok, Pui-Yan PY; Bowcock, Anne A; Schalkwijk, Joost J; Estivill, Xavier X

Publication Date: 2009-02

Variant appearance in text: rs1062470

PubMed Link: 19169253

Variant Present in the following documents:

• Main text

View BVdb publication page

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ADAM33, a new candidate for psoriasis susceptibility.

Plos One

Lesueur, Fabienne F; Oudot, Tiphaine T; Heath, Simon S; Foglio, Mario M; Lathrop, Mark M; Prud'homme, Jean-François JF; Fischer, Judith J

Publication Date: 2007-09-19

Variant appearance in text: rs1062470

PubMed Link: 17878941

Variant Present in the following documents:

• Main text
• pone.0000906.pdf

View BVdb publication page

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