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: SCN5A: 260A>G; Tyr87Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome.

Frontiers In Pharmacology

Zaklyazminskaya, Elena E; Shestak, Anna A; Podolyak, Dmitry D; Komoliatova, Vera V; Makarov, Leonid L; Novitskaya, Anna A; Revishvili, Amiran A

Publication Date: 2022

Variant appearance in text: SCN5A: 260A>G

PubMed Link: 36091819

Variant Present in the following documents:

• Main text
• fphar-13-984299.pdf

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: SCN5A: 260A>G; Y87C

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: Nav1.5: Y87C

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

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Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5.

Channels (Austin, Tex.)

Wang, Zizun Z; Vermij, Sarah H SH; Sottas, Valentin V; Shestak, Anna A; Ross-Kaschitza, Daniela D; Zaklyazminskaya, Elena V EV; Hudmon, Andy A; Pitt, Geoffrey S GS; Rougier, Jean-Sébastien JS; Abriel, Hugues H

Publication Date: 2020-12

Variant appearance in text: SCN5A: 260A>G; Y87C

PubMed Link: 32815768

Variant Present in the following documents:

• Main text

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: Y87C

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics

Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ

Publication Date: 2015-08

Variant appearance in text: SCN5A: Y87C

PubMed Link: 25904541

Variant Present in the following documents:

• Main text

View BVdb publication page

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