Publications:

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 950A>C; Asp317Ala

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal

Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V

Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: D317A

PubMed Link: 21320432

Variant Present in the following documents:

• Main text

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An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Biophysical Journal

Gibor, Gilad G; Yakubovich, Daniel D; Rosenhouse-Dantsker, Avia A; Peretz, Asher A; Schottelndreier, Hella H; Seebohm, Guiscard G; Dascal, Nathan N; Logothetis, Diomedes E DE; Paas, Yoav Y; Attali, Bernard B

Publication Date: 2007-12-15

Variant appearance in text: KCNQ1: D317A

PubMed Link: 17704175

Variant Present in the following documents:

• Main text

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