Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CHRNB2: 901C>G; Leu301Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Cholinergic Signaling, Neural Excitability, and Epilepsy.

Molecules (Basel, Switzerland)

Wang, Yu Y; Tan, Bei B; Wang, Yi Y; Chen, Zhong Z

Publication Date: 2021-04-13

Variant appearance in text: CHRNB2: L301V

PubMed Link: 33924731

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications

Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2019-04-11

Variant appearance in text: CHRNB2: 901C>G; L301V; rs281865069

PubMed Link: 30975989

Variant Present in the following documents:

• 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: CHRNB2: 901C>G; L301V

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 2

View BVdb publication page

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: CHRNB2: L301V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics

Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y

Publication Date: 2016-04

Variant appearance in text: CHRNB2: L301V

PubMed Link: 27093186

Variant Present in the following documents:

• pgen.1005895.s019.xlsx, sheet 1

View BVdb publication page

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Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.

International Journal Of Clinical And Experimental Medicine

Chen, Zhihong Z; Wang, Lingan L; Wang, Chun C; Chen, Qian Q; Zhai, Qiongxiang Q; Guo, Yuxiong Y; Zhang, Yuxin Y

Publication Date: 2015

Variant appearance in text: CHRNB2: L301V

PubMed Link: 26309560

Variant Present in the following documents:

• Main text

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Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.

Isrn Biochemistry

Becchetti, Andrea A

Publication Date: 2012

Variant appearance in text: CHRNB2: L301V

PubMed Link: 25969754

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.

Frontiers In Physiology

Becchetti, Andrea A; Aracri, Patrizia P; Meneghini, Simone S; Brusco, Simone S; Amadeo, Alida A

Publication Date: 2015

Variant appearance in text: CHRNB2: L301V

PubMed Link: 25717303

Variant Present in the following documents:

• Main text

View BVdb publication page

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