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: 940G>T; Gly314Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.

Disease Models & Mechanisms

Kojima, Takashi T; Wasano, Koichiro K; Takahashi, Satoe S; Homma, Kazuaki K

Publication Date: 2021-11-01

Variant appearance in text: Kv7.1: G314C

PubMed Link: 34622280

Variant Present in the following documents:

• Main text

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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: KCNQ1: G314C

PubMed Link: 32431610

Variant Present in the following documents:

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

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Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica

Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A

Publication Date: 2019-03

Variant appearance in text: KCNQ1: G314C

PubMed Link: 30930557

Variant Present in the following documents:

• Main text

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KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

Clinical Genetics

Chen, S S; Zhang, L L; Bryant, R M RM; Vincent, G M GM; Flippin, M M; Lee, J C JC; Brown, E E; Zimmerman, F F; Rozich, R R; Szafranski, P P; Oberti, C C; Sterba, R R; Marangi, D D; Tchou, P J PJ; Chung, M K MK; Wang, Q Q

Publication Date: 2003-04

Variant appearance in text: KCNQ1: G314C

PubMed Link: 12702160

Variant Present in the following documents:

• Main text

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