Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 701A>G; Gln234Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Mechanisms Underlying the Dual Effect of Polyunsaturated Fatty Acid Analogs on Kv7.1.

Cell Reports

Liin, Sara I SI; Yazdi, Samira S; Ramentol, Rosamary R; Barro-Soria, Rene R; Larsson, H Peter HP

Publication Date: 2018-09-11

Variant appearance in text: Kv7.1: Q234R

PubMed Link: 30208316

Variant Present in the following documents:

• Main text

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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal

Cui, Jianmin J

Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: Q234R

PubMed Link: 26745405

Variant Present in the following documents:

• Main text

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A shared mechanism for lipid- and beta-subunit-coordinated stabilization of the activated K+ channel voltage sensor.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Choi, Eun E; Abbott, Geoffrey W GW

Publication Date: 2010-05

Variant appearance in text: KCNQ1: Q234R

PubMed Link: 20040519

Variant Present in the following documents:

• Main text

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The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

The Journal Of General Physiology

Panaghie, Gianina G; Abbott, Geoffrey W GW

Publication Date: 2007-02

Variant appearance in text: KCNQ1: Q234R

PubMed Link: 17227916

Variant Present in the following documents:

• Main text
• jgp1290121.pdf

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