Publications:

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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: rs780106

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs780106

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs780106

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2020-07-01

Variant appearance in text: rs780106

PubMed Link: 32630231

Variant Present in the following documents:

• ijms-21-04702-s001.pdf

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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: rs780106

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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New genetic signatures associated with cancer cachexia as defined by low skeletal muscle index and weight loss.

Journal Of Cachexia, Sarcopenia And Muscle

Johns, Neil N; Stretch, Cynthia C; Tan, Benjamin H L BH; Solheim, Tora S TS; Sørhaug, Sveinung S; Stephens, Nathan A NA; Gioulbasanis, Ioannis I; Skipworth, Richard J E RJ; Deans, D A Christopher DA; Vigano, Antonio A; Ross, James A JA; Bathe, Oliver F OF; Tremblay, Michel L ML; Kaasa, Stein S; Strasser, Florian F; Gagnon, Bruno B; Baracos, Vickie E VE; Damaraju, Sambasivarao S; Fearon, Kenneth C H KC

Publication Date: 2017-02

Variant appearance in text: rs780106

PubMed Link: 27897403

Variant Present in the following documents:

• Main text
• JCSM-8-122.pdf

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Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.

Aging Cell

Teumer, Alexander A; Qi, Qibin Q; Nethander, Maria M; Aschard, Hugues H; Bandinelli, Stefania S; Beekman, Marian M; Berndt, Sonja I SI; Bidlingmaier, Martin M; Broer, Linda L; , ; Cappola, Anne A; Ceda, Gian Paolo GP; Chanock, Stephen S; Chen, Ming-Huei MH; Chen, Tai C TC; Chen, Yii-Der Ida YD; Chung, Jonathan J; Del Greco Miglianico, Fabiola F; Eriksson, Joel J; Ferrucci, Luigi L; Friedrich, Nele N; Gnewuch, Carsten C; Goodarzi, Mark O MO; Grarup, Niels N; Guo, Tingwei T; Hammer, Elke E; Hayes, Richard B RB; Hicks, Andrew A AA; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Hu, Frank F; Hunter, David J DJ; Husemoen, Lise L LL; Isaacs, Aaron A; Jacobs, Kevin B KB; Janssen, Joop A M J L JA; Jansson, John-Olov JO; Jehmlich, Nico N; Johnson, Simon S; Juul, Anders A; Karlsson, Magnus M; Kilpelainen, Tuomas O TO; Kovacs, Peter P; Kraft, Peter P; Li, Chao C; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; , ; Lorentzon, Mattias M; Lu, Yingchang Y; Maggio, Marcello M; Magi, Reedik R; Meigs, James J; Mellström, Dan D; Nauck, Matthias M; Newman, Anne B AB; Pollak, Michael N MN; Pramstaller, Peter P PP; Prokopenko, Inga I; Psaty, Bruce M BM; Reincke, Martin M; Rimm, Eric B EB; Rotter, Jerome I JI; Saint Pierre, Aude A; Schurmann, Claudia C; Seshadri, Sudha S; Sjögren, Klara K; Slagboom, P Eline PE; Strickler, Howard D HD; Stumvoll, Michael M; Suh, Yousin Y; Sun, Qi Q; Zhang, Cuilin C; Svensson, Johan J; Tanaka, Toshiko T; Tare, Archana A; Tönjes, Anke A; Uh, Hae-Won HW; van Duijn, Cornelia M CM; van Heemst, Diana D; Vandenput, Liesbeth L; Vasan, Ramachandran S RS; Völker, Uwe U; Willems, Sara M SM; Ohlsson, Claes C; Wallaschofski, Henri H; Kaplan, Robert C RC

Publication Date: 2016-10

Variant appearance in text: rs780106

PubMed Link: 27329260

Variant Present in the following documents:

• ACEL-15-811-s001.pdf

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs780106

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

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Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

American Journal Of Human Genetics

Ridker, Paul M PM; Pare, Guillaume G; Parker, Alex A; Zee, Robert Y L RY; Danik, Jacqueline S JS; Buring, Julie E JE; Kwiatkowski, David D; Cook, Nancy R NR; Miletich, Joseph P JP; Chasman, Daniel I DI

Publication Date: 2008-05

Variant appearance in text: rs780106

PubMed Link: 18439548

Variant Present in the following documents:

• Main text

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