Publications:

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Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Cancer Research And Treatment

Hong, Jung Yong JY; Cho, Hee Jin HJ; Yun, Kum-Hee KH; Lee, Young Han YH; Kim, Seung Hyun SH; Baek, Wooyeol W; Kim, Sang Kyum SK; Lee, Yurimi Y; Choi, Yoon-La YL; Kwon, Minsuk M; Kim, Hyo Song HS; Lee, Jeeyun J

Publication Date: 2022-09-27

Variant appearance in text: SCN5A: G752R

PubMed Link: 36164943

Variant Present in the following documents:

• crt-2022-251-Supplementary-Table-2.xlsx, sheet 1

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: G752R

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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High-Throughput Reclassification of SCN5A Variants.

American Journal Of Human Genetics

Glazer, Andrew M AM; Wada, Yuko Y; Li, Bian B; Muhammad, Ayesha A; Kalash, Olivia R OR; O'Neill, Matthew J MJ; Shields, Tiffany T; Hall, Lynn L; Short, Laura L; Blair, Marcia A MA; Kroncke, Brett M BM; Capra, John A JA; Roden, Dan M DM

Publication Date: 2020-07-02

Variant appearance in text: SCN5A: Gly752Arg

PubMed Link: 32533946

Variant Present in the following documents:

• Main text

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Deep Mutational Scan of an SCN5A Voltage Sensor.

Circulation. Genomic And Precision Medicine

Glazer, Andrew M AM; Kroncke, Brett M BM; Matreyek, Kenneth A KA; Yang, Tao T; Wada, Yuko Y; Shields, Tiffany T; Salem, Joe-Elie JE; Fowler, Douglas M DM; Roden, Dan M DM

Publication Date: 2020-02

Variant appearance in text: SCN5A: G752R

PubMed Link: 31928070

Variant Present in the following documents:

• Main text

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: G752R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: G752R

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: G752R

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SCN5A: G752R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.

Circulation. Arrhythmia And Electrophysiology

Varga, Zoltan Z; Zhu, Wandi W; Schubert, Angela R AR; Pardieck, Jennifer L JL; Krumholz, Arie A; Hsu, Eric J EJ; Zaydman, Mark A MA; Cui, Jianmin J; Silva, Jonathan R JR

Publication Date: 2015-10

Variant appearance in text: SCN5A: G752R

PubMed Link: 26283144

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN5A: G752R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: G752R

PubMed Link: 25904541

Variant Present in the following documents:

• Main text

View BVdb publication page

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