Publications:

A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: V94G

PubMed Link: 32475984

Variant Present in the following documents:

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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT

Publication Date: 2020-05

Variant appearance in text: KCNH2: V94G

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Heart Rhythm

Tester, David J DJ; Valdivia, Carmen C; Harris-Kerr, Carole C; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Makielski, Jonathan C JC; Ackerman, Michael J MJ

Publication Date: 2010-07

Variant appearance in text: KCNH2: V94G

PubMed Link: 20403459

Variant Present in the following documents:

• Main text

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