Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs13306575

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NCF2: R395G; rs13306575

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genome-wide association study for systemic lupus erythematosus in an egyptian population.

Frontiers In Genetics

Elghzaly, Ashraf A AA; Sun, Celi C; Looger, Loren L LL; Hirose, Misa M; Salama, Mohamed M; Khalil, Noha M NM; Behiry, Mervat Essam ME; Hegazy, Mohamed Tharwat MT; Hussein, Mohamed Ahmed MA; Salem, Mohamad Nabil MN; Eltoraby, Ehab E; Tawhid, Ziyad Z; Alwasefy, Mona M; Allam, Walaa W; El-Shiekh, Iman I; Elserafy, Menattallah M; Abdelnaser, Anwar A; Hashish, Sara S; Shebl, Nourhan N; Shahba, Abeer Abdelmonem AA; Elgirby, Amira A; Hassab, Amina A; Refay, Khalida K; El-Touchy, Hanan Mohamed HM; Youssef, Ali A; Shabacy, Fatma F; Hashim, Abdelkader Ahmed AA; Abdelzaher, Asmaa A; Alshebini, Emad E; Fayez, Dalia D; El-Bakry, Samah A SA; Elzohri, Mona H MH; Abdelsalam, Eman Nagiub EN; El-Khamisy, Sherif F SF; Ibrahim, Saleh S; Ragab, Gaafar G; Nath, Swapan K SK

Publication Date: 2022

Variant appearance in text: rs13306575

PubMed Link: 36324510

Variant Present in the following documents:

• Main text
• fgene-13-948505.pdf

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Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.

Annals Of The Rheumatic Diseases

Yin, Xianyong X; Kim, Kwangwoo K; Suetsugu, Hiroyuki H; Bang, So-Young SY; Wen, Leilei L; Koido, Masaru M; Ha, Eunji E; Liu, Lu L; Sakamoto, Yuma Y; Jo, Sungsin S; Leng, Rui-Xue RX; Otomo, Nao N; Laurynenka, Viktoryia V; Kwon, Young-Chang YC; Sheng, Yujun Y; Sugano, Nobuhiko N; Hwang, Mi Yeong MY; Li, Weiran W; Mukai, Masaya M; Yoon, Kyungheon K; Cai, Minglong M; Ishigaki, Kazuyoshi K; Chung, Won Tae WT; Huang, He H; Takahashi, Daisuke D; Lee, Shin-Seok SS; Wang, Mengwei M; Karino, Kohei K; Shim, Seung-Cheol SC; Zheng, Xiaodong X; Miyamura, Tomoya T; Kang, Young Mo YM; Ye, Dongqing D; Nakamura, Junichi J; Suh, Chang-Hee CH; Tang, Yuanjia Y; Motomura, Goro G; Park, Yong-Beom YB; Ding, Huihua H; Kuroda, Takeshi T; Choe, Jung-Yoon JY; Li, Chengxu C; Niiro, Hiroaki H; Park, Youngho Y; Shen, Changbing C; Miyamoto, Takeshi T; Ahn, Ga-Young GY; Fei, Wenmin W; Takeuchi, Tsutomu T; Shin, Jung-Min JM; Li, Keke K; Kawaguchi, Yasushi Y; Lee, Yeon-Kyung YK; Wang, Yongfei Y; Amano, Koichi K; Park, Dae Jin DJ; Yang, Wanling W; Tada, Yoshifumi Y; Yamaji, Ken K; Shimizu, Masato M; Atsumi, Takashi T; Suzuki, Akari A; Sumida, Takayuki T; Okada, Yukinori Y; Matsuda, Koichi K; Matsuo, Keitaro K; Kochi, Yuta Y; , ; Kottyan, Leah C LC; Weirauch, Matthew T MT; Parameswaran, Sreeja S; Eswar, Shruti S; Salim, Hanan H; Chen, Xiaoting X; Yamamoto, Kazuhiko K; Harley, John B JB; Ohmura, Koichiro K; Kim, Tae-Hwan TH; Yang, Sen S; Yamamoto, Takuaki T; Kim, Bong-Jo BJ; Shen, Nan N; Ikegawa, Shiro S; Lee, Hye-Soon HS; Zhang, Xuejun X; Terao, Chikashi C; Cui, Yong Y; Bae, Sang-Cheol SC

Publication Date: 2021-05

Variant appearance in text: rs13306575

PubMed Link: 33272962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of NCF2, NCF4, and CYBA Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population.

Journal Of Immunology Research

Zhang, Tian-Ping TP; Li, Rui R; Huang, Qian Q; Pan, Han-Feng HF; Ye, Dong-Qing DQ; Li, Xiao-Mei XM

Publication Date: 2020

Variant appearance in text: rs13306575

PubMed Link: 33145364

Variant Present in the following documents:

• Main text
• JIR2020-8528976.pdf

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Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases.

Scientific Reports

Cavalli, Marco M; Baltzer, Nicholas N; Umer, Husen M HM; Grau, Jan J; Lemnian, Ioana I; Pan, Gang G; Wallerman, Ola O; Spalinskas, Rapolas R; Sahlén, Pelin P; Grosse, Ivo I; Komorowski, Jan J; Wadelius, Claes C

Publication Date: 2019-02-25

Variant appearance in text: rs13306575

PubMed Link: 30804403

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39633.pdf

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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: rs13306575

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.

Arthritis & Rheumatology (Hoboken, N.J.)

Alarcón-Riquelme, Marta E ME; Ziegler, Julie T JT; Molineros, Julio J; Howard, Timothy D TD; Moreno-Estrada, Andrés A; Sánchez-Rodríguez, Elena E; Ainsworth, Hannah C HC; Ortiz-Tello, Patricia P; Comeau, Mary E ME; Rasmussen, Astrid A; Kelly, Jennifer A JA; Adler, Adam A; Acevedo-Vázquez, Eduardo M EM; Cucho-Venegas, Jorge Mariano JM; García-De la Torre, Ignacio I; Cardiel, Mario H MH; Miranda, Pedro P; Catoggio, Luis J LJ; Maradiaga-Ceceña, Marco M; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Criswell, Lindsey A LA; Tsao, Betty P BP; Sivils, Kathy L KL; Bae, Sang-Cheol SC; James, Judith A JA; Kimberly, Robert P RP; Kaufman, Kenneth M KM; Harley, John B JB; Esquivel-Valerio, Jorge A JA; Moctezuma, José F JF; García, Mercedes A MA; Berbotto, Guillermo A GA; Babini, Alejandra M AM; Scherbarth, Hugo H; Toloza, Sergio S; Baca, Vicente V; Nath, Swapan K SK; Aguilar Salinas, Carlos C; Orozco, Lorena L; Tusié-Luna, Teresa T; Zidovetzki, Raphael R; Pons-Estel, Bernardo A BA; Langefeld, Carl D CD; Jacob, Chaim O CO

Publication Date: 2016-04

Variant appearance in text: rs13306575

PubMed Link: 26606652

Variant Present in the following documents:

• Main text

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Systemic lupus erythematosus-associated neutrophil cytosolic factor 2 mutation affects the structure of NADPH oxidase complex.

The Journal Of Biological Chemistry

Armstrong, Don L DL; Eisenstein, Miriam M; Zidovetzki, Raphael R; Jacob, Chaim O CO

Publication Date: 2015-05-15

Variant appearance in text: rs13306575

PubMed Link: 25795782

Variant Present in the following documents:

• Main text

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Evaluation of SLE Susceptibility Genes in Malaysians.

Autoimmune Diseases

Molineros, Julio E JE; Chua, Kek Heng KH; Sun, Celi C; Lian, Lay Hoong LH; Motghare, Prasenjeet P; Kim-Howard, Xana X; Nath, Swapan K SK

Publication Date: 2014

Variant appearance in text: rs13306575

PubMed Link: 24696779

Variant Present in the following documents:

• Main text
• AD2014-305436.pdf

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A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity.

Arthritis Research & Therapy

Olsson, Lina M LM; Lindqvist, Anna-Karin AK; Källberg, Henrik H; Padyukov, Leonid L; Burkhardt, Harald H; Alfredsson, Lars L; Klareskog, Lars L; Holmdahl, Rikard R

Publication Date: 2007

Variant appearance in text: rs13306575

PubMed Link: 17897462

Variant Present in the following documents:

• Main text
• ar2299.pdf

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