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: rs1007311

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: NOS3: 817-26A>G; rs1007311

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: rs1007311

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: NOS3: 817-26A>G; rs1007311

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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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: NOS3: 817-26A>G; rs1007311

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese.

Hypoxia (Auckland, N.Z.)

Buroker, Norman E NE; Ning, Xue-Han XH; Zhou, Zhao-Nian ZN; Li, Kui K; Cen, Wei-Jun WJ; Wu, Xiu-Feng XF; Zhu, Wei-Zhong WZ; Scott, C Ronald CR; Chen, Shi-Han SH

Publication Date: 2017

Variant appearance in text: rs1007311

PubMed Link: 28770234

Variant Present in the following documents:

• Main text
• hp-5-067.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1007311

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic Regulation of Endothelial Vasomotor Function.

Frontiers In Physiology

Kim, Seung Kyum SK; Massett, Michael P MP

Publication Date: 2016

Variant appearance in text: rs1007311

PubMed Link: 27932996

Variant Present in the following documents:

• Main text
• fphys-07-00571.pdf

View BVdb publication page

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EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension.

Scientific Reports

Mei, Mei M; Cheng, Guoqiang G; Sun, Bijun B; Yang, Lin L; Wang, Huijun H; Sun, Jinqiao J; Zhou, Wenhao W

Publication Date: 2016-07-18

Variant appearance in text: rs1007311

PubMed Link: 27425626

Variant Present in the following documents:

• Main text
• srep29877.pdf

View BVdb publication page

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TOX and CDKN2A/B Gene Polymorphisms Are Associated with Type 2 Diabetes in Han Chinese.

Scientific Reports

Wei, Fengjiang F; Cai, Chunyou C; Feng, Shuzhi S; Lv, Jia J; Li, Shen S; Chang, Baocheng B; Zhang, Hong H; Shi, Wentao W; Han, Hongling H; Ling, Chao C; Yu, Ping P; Chen, Yongjun Y; Sun, Ning N; Tian, Jianli J; Jiao, Hongxiao H; Yang, Fuhua F; Li, Mingshan M; Wang, Yuhua Y; Zou, Lei L; Su, Long L; Li, Jingbo J; Li, Ran R; Qiu, Huina H; Shi, Jingmin J; Liu, Shiying S; Chang, Mingqin M; Lin, Jingna J; Chen, Liming L; Li, Wei-Dong WD

Publication Date: 2015-07-03

Variant appearance in text: rs1007311

PubMed Link: 26139146

Variant Present in the following documents:

• Main text
• srep11900.pdf

View BVdb publication page

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Gene variants in the angiogenesis pathway and prostate cancer.

Carcinogenesis

Amankwah, Ernest K EK; Sellers, Thomas A TA; Park, Jong Y JY

Publication Date: 2012-07

Variant appearance in text: rs1007311

PubMed Link: 22523086

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: rs1007311

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Han, Xuesong X; Zheng, Tongzhang T; Lan, Qing Q; Zhang, Yaqun Y; Kilfoy, Briseis A BA; Qin, Qin Q; Rothman, Nathaniel N; Zahm, Shelia H SH; Holford, Theodore R TR; Leaderer, Brian B; Zhang, Yawei Y

Publication Date: 2009-05

Variant appearance in text: rs1007311

PubMed Link: 19423521

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nitric oxide synthase gene polymorphisms and prostate cancer risk.

Carcinogenesis

Lee, Kyoung-Mu KM; Kang, Daehee D; Park, Sue Kyung SK; Berndt, Sonja I SI; Reding, Douglas D; Chatterjee, Nilanjan N; Chanock, Stephen S; Huang, Wen-Yi WY; Hayes, Richard B RB

Publication Date: 2009-04

Variant appearance in text: rs1007311

PubMed Link: 19168583

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

Cancer Research

Hsing, Ann W AW; Sakoda, Lori C LC; Rashid, Asif A; Andreotti, Gabriella G; Chen, Jinbo J; Wang, Bin-Shen BS; Shen, Ming-Chang MC; Chen, Bingshu E BE; Rosenberg, Philip S PS; Zhang, Mingdong M; Niwa, Shelley S; Chu, Lisa L; Welch, Robert R; Yeager, Meredith M; Fraumeni, Joseph F JF; Gao, Yu-Tang YT; Chanock, Stephen J SJ

Publication Date: 2008-08-01

Variant appearance in text: rs1007311

PubMed Link: 18676870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.

American Journal Of Hypertension

Vimaleswaran, Karani S KS; Franks, Paul W PW; Barroso, Inês I; Brage, Soren S; Ekelund, Ulf U; Wareham, Nicholas J NJ; Loos, Ruth J F RJ

Publication Date: 2008-03

Variant appearance in text: rs1007311

PubMed Link: 18246059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.

Bone

Cho, K K; Demissie, S S; Dupuis, J J; Cupples, L A LA; Kathiresan, S S; Beck, T J TJ; Karasik, D D; Kiel, D P DP

Publication Date: 2008-01

Variant appearance in text: rs1007311

PubMed Link: 17980690

Variant Present in the following documents:

• Main text

View BVdb publication page

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