Publications:

When the Gates Swing Open Only: Arrhythmia Mutations That Target the Fast Inactivation Gate of Nav1.5.

Cells

Gamal El-Din, Tamer M TM

Publication Date: 2022-11-22

Variant appearance in text: LQT3: E1489D

PubMed Link: 36496974

Variant Present in the following documents:

• Main text
• cells-11-03714.pdf

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A Bayesian method to estimate variant-induced disease penetrance.

Plos Genetics

Kroncke, Brett M BM; Smith, Derek K DK; Zuo, Yi Y; Glazer, Andrew M AM; Roden, Dan M DM; Blume, Jeffrey D JD

Publication Date: 2020-06

Variant appearance in text: SCN5A: 4467G>T; Glu1489Asp

PubMed Link: 32569262

Variant Present in the following documents:

• Main text
• pgen.1008862.pdf

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The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: LQT3: E1489D

PubMed Link: 30669290

Variant Present in the following documents:

• Main text

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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: E1489D

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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