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: rs2242420

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs2242420

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: rs2242420

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs2242420

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs2242420

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetic analysis of cinacalcet response in secondary hyperparathyroidism patients.

Drug Design, Development And Therapy

Jeong, Sohyun S; Kim, In-Wha IW; Oh, Kook-Hwan KH; Han, Nayoung N; Joo, Kwon Wook KW; Kim, Hyo Jin HJ; Oh, Jung Mi JM

Publication Date: 2016

Variant appearance in text: rs2242420

PubMed Link: 27468225

Variant Present in the following documents:

• Main text
• dddt-10-2211.pdf

View BVdb publication page

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Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults.

The Journal Of Nutrition

Carter, Tonia C TC; Pangilinan, Faith F; Molloy, Anne M AM; Fan, Ruzong R; Wang, Yifan Y; Shane, Barry B; Gibney, Eileen R ER; Midttun, Øivind Ø; Ueland, Per M PM; Cropp, Cheryl D CD; Kim, Yoonhee Y; Wilson, Alexander F AF; Bailey-Wilson, Joan E JE; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2015-07

Variant appearance in text: rs2242420

PubMed Link: 25972531

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.

Bmc Genomics

Li, Jun J; Gui, Lixuan L; Wu, Chen C; He, Yunfeng Y; Zhou, Li L; Guo, Huan H; Yuan, Jing J; Yang, Binyao B; Dai, Xiayun X; Deng, Qifei Q; Huang, Suli S; Guan, Lei L; Hu, Die D; Deng, Siyun S; Wang, Tian T; Zhu, Jiang J; Min, Xinwen X; Lang, Mingjian M; Li, Dongfeng D; Yang, Handong H; Hu, Frank B FB; Lin, Dongxin D; Wu, Tangchun T; He, Meian M

Publication Date: 2013-10-05

Variant appearance in text: rs2242420

PubMed Link: 24094242

Variant Present in the following documents:

• Main text
• 1471-2164-14-684.pdf

View BVdb publication page

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs2242420

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 2
• pone.0018158.s001.xls, sheet 4

View BVdb publication page

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