Publications:

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: SCN5A: L250P

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Heart Rhythm

Kapplinger, Jamie D JD; Tester, David J DJ; Salisbury, Benjamin A BA; Carr, Janet L JL; Harris-Kerr, Carole C; Pollevick, Guido D GD; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2009-09

Variant appearance in text: SCN5A: L250P

PubMed Link: 19716085

Variant Present in the following documents:

• Main text

View BVdb publication page