Publications:

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: Y389X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

Clinical And Translational Science

Cheng, Jianding J; Morales, Ana A; Siegfried, Jill D JD; Li, Duanxiang D; Norton, Nadine N; Song, Junyao J; Gonzalez-Quintana, Jorge J; Makielski, Jonathan C JC; Hershberger, Ray E RE

Publication Date: 2010-12

Variant appearance in text: SCN5A: Y389X

PubMed Link: 21167004

Variant Present in the following documents:

• Main text

View BVdb publication page

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: Y389X

PubMed Link: 19716085

Variant Present in the following documents:

• Main text

View BVdb publication page