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: rs3087343

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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Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Spena, Silvia S; Cairo, Andrea A; Pappalardo, Emanuela E; Gorski, Marcin M MM; Garagiola, Isabella I; Hassan, Shermarke S; Gualtierotti, Roberta R; Peyvandi, Flora F

Publication Date: 2022-03

Variant appearance in text: rs3087343

PubMed Link: 35182444

Variant Present in the following documents:

• Main text
• HAE-28-270.pdf

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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: rs3087343

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs3087343

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.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: MCM6: 1078+40A>C; rs3087343

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

American Journal Of Human Genetics

Auer, Paul L PL; Johnsen, Jill M JM; Johnson, Andrew D AD; Logsdon, Benjamin A BA; Lange, Leslie A LA; Nalls, Michael A MA; Zhang, Guosheng G; Franceschini, Nora N; Fox, Keolu K; Lange, Ethan M EM; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Jackson, Rebecca D RD; Wallace, Robert B RB; Chen, Zhao Z; Graubert, Timothy A TA; Wilson, James G JG; Tang, Hua H; Lettre, Guillaume G; Reiner, Alex P AP; Ganesh, Santhi K SK; Li, Yun Y

Publication Date: 2012-11-02

Variant appearance in text: rs3087343

PubMed Link: 23103231

Variant Present in the following documents:

• Main text

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Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.

American Journal Of Human Genetics

Enattah, Nabil Sabri NS; Trudeau, Aimee A; Pimenoff, Ville V; Maiuri, Luigi L; Auricchio, Salvatore S; Greco, Luigi L; Rossi, Mauro M; Lentze, Michael M; Seo, J K JK; Rahgozar, Soheila S; Khalil, Insaf I; Alifrangis, Michael M; Natah, Sirajedin S; Groop, Leif L; Shaat, Nael N; Kozlov, Andrew A; Verschubskaya, Galina G; Comas, David D; Bulayeva, Kazima K; Mehdi, S Qasim SQ; Terwilliger, Joseph D JD; Sahi, Timo T; Savilahti, Erkki E; Perola, Markus M; Sajantila, Antti A; Järvelä, Irma I; Peltonen, Leena L

Publication Date: 2007-09

Variant appearance in text: rs3087343

PubMed Link: 17701907

Variant Present in the following documents:

• Main text

View BVdb publication page

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