Publications:

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: CHRNA2: 1126C>T; Arg376Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Brain Sciences

Becchetti, Andrea A; Grandi, Laura Clara LC; Colombo, Giulia G; Meneghini, Simone S; Amadeo, Alida A

Publication Date: 2020-11-25

Variant appearance in text: CHRNA2: Arg376Trp

PubMed Link: 33255633

Variant Present in the following documents:

• Main text
• brainsci-10-00907.pdf

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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: CHRNA2: R376W

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: CHRNA2: R376W

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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