Publications:

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Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine

Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R

Publication Date: 2021-08-09

Variant appearance in text: ERAP1: 1452+18T>C; rs27710

PubMed Link: 34291583

Variant Present in the following documents:

• EMMM-13-e12881-s004.xlsx, sheet 1
• EMMM-13-e12881-s010.xlsx, sheet 1

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: ERAP1: 1452+18T>C; rs27710

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: rs27710

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival.

Cancer Immunology, Immunotherapy : Cii

Yang, Sen S; Tang, Dongfang D; Zhao, Yu Chen YC; Liu, Hongliang H; Luo, Sheng S; Stinchcombe, Thomas E TE; Glass, Carolyn C; Su, Li L; Shen, Sipeng S; Christiani, David C DC; Wang, Qiming Q; Wei, Qingyi Q

Publication Date: 2021-10

Variant appearance in text: rs27710

PubMed Link: 33651148

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs27710

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individuals.

Human Immunology

Pavlos, Rebecca R; Deshpande, Pooja P; Chopra, Abha A; Leary, Shay S; Strautins, Kaija K; Nolan, David D; Thorborn, Daren D; Shaefer, Mark M; Rauch, Andri A; Dunn, David D; Montaner, Julio J; Rachlis, Anita A; Almeida, Coral-Ann CA; Choo, Linda L; James, Ian I; Redwood, Alec J AJ; Li, Yueran Y; Gaudieri, Silvana S; Mallal, Simon A SA; Phillips, Elizabeth J EJ

Publication Date: 2020-06

Variant appearance in text: rs27710

PubMed Link: 32173028

Variant Present in the following documents:

• Main text

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: rs27710

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_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: ERAP1: 1452+18T>C; rs27710

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A functional variant in ERAP1 predisposes to multiple sclerosis.

Plos One

Guerini, Franca Rosa FR; Cagliani, Rachele R; Forni, Diego D; Agliardi, Cristina C; Caputo, Domenico D; Cassinotti, Andrea A; Galimberti, Daniela D; Fenoglio, Chiara C; Biasin, Mara M; Asselta, Rosanna R; Scarpini, Elio E; Comi, Giacomo P GP; Bresolin, Nereo N; Clerici, Mario M; Sironi, Manuela M

Publication Date: 2012

Variant appearance in text: rs27710

PubMed Link: 22253828

Variant Present in the following documents:

• Main text
• pone.0029931.pdf

View BVdb publication page

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