Publications:

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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: 824T>C; Phe275Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.

International Journal Of Molecular Sciences

Wu, Xiaoan X; Larsson, H Peter HP

Publication Date: 2020-12-11

Variant appearance in text: KCNQ1: F275S

PubMed Link: 33322401

Variant Present in the following documents:

• ijms-21-09440.pdf

View BVdb publication page

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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: F275S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNQ1: 824T>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Pacing And Clinical Electrophysiology : Pace

Chen, Jerri J; Weber, Michael M; Um, Sung Yon SY; Walsh, Christine A CA; Tang, Yingying Y; McDonald, Thomas V TV

Publication Date: 2011-12

Variant appearance in text: KCNQ1: F275S

PubMed Link: 21895724

Variant Present in the following documents:

• Main text

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT1: F275S

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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Structural models for the KCNQ1 voltage-gated potassium channel.

Biochemistry

Smith, Jarrod A JA; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2007-12-11

Variant appearance in text: KCNQ1: Phe275Ser

PubMed Link: 17999538

Variant Present in the following documents:

• Main text

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KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Human Mutation

Liu, Wenling W; Yang, Junguo J; Hu, Dayi D; Kang, Cailian C; Li, Cuilan C; Zhang, Shuoyan S; Li, Ping P; Chen, Zhijian Z; Qin, Xuguang X; Ying, Kang K; Li, Yuntian Y; Li, Yushu Y; Li, Zhiming Z; Cheng, Xin X; Li, Lei L; Qi, Yu Y; Chen, Shenghan S; Wang, Qing Q

Publication Date: 2002-12

Variant appearance in text: KCNQ1: F275S

PubMed Link: 12442276

Variant Present in the following documents:

• Main text

View BVdb publication page

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