Publications:

Functional implications of a rare variant in the sodium channel β1B subunit (SCN1B) in a 5-month-old male sudden infant death syndrome case.

Heartrhythm Case Reports

Neubauer, Jacqueline J; Rougier, Jean-Sébastien JS; Abriel, Hugues H; Haas, Cordula C

Publication Date: 2018-05

Variant appearance in text: Nav1.5: R225C

PubMed Link: 29915715

Variant Present in the following documents:

• main.pdf

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Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.

Frontiers In Physiology

Edokobi, Nnamdi N; Isom, Lori L LL

Publication Date: 2018

Variant appearance in text: Nav1.5: R225C

PubMed Link: 29740331

Variant Present in the following documents:

• Main text
• fphys-09-00351.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: CMD1E: R225C

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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