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: 1799C>T; Thr600Met

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: KCNQ1: 1799C>T; T600M

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNQ1: 1799C>T

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm

Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ

Publication Date: 2018-04

Variant appearance in text: KCNQ1: T600M

PubMed Link: 29197658

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ1: 1799C>T; Thr600Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics

Dorschner, Michael O MO; Amendola, Laura M LM; Turner, Emily H EH; Robertson, Peggy D PD; Shirts, Brian H BH; Gallego, Carlos J CJ; Bennett, Robin L RL; Jones, Kelly L KL; Tokita, Mari J MJ; Bennett, James T JT; Kim, Jerry H JH; Rosenthal, Elisabeth A EA; Kim, Daniel S DS; , ; Tabor, Holly K HK; Bamshad, Michael J MJ; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom T; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Nickerson, Deborah A DA; Jarvik, Gail P GP

Publication Date: 2013-10-03

Variant appearance in text: KCNQ1: 1799C>T; Thr600Met; rs34516117

PubMed Link: 24055113

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology

Wilders, Ronald R

Publication Date: 2012

Variant appearance in text: KCNQ1: T600M

PubMed Link: 23304551

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNQ1: T600M

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology

Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M

Publication Date: 2012-08-13

Variant appearance in text: KCNQ1: T600M

PubMed Link: 22947121

Variant Present in the following documents:

• Main text
• 2050-6511-13-6.pdf

View BVdb publication page

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Sudden infant death syndrome: do ion channels play a role?

Heart Rhythm

Van Norstrand, David W DW; Ackerman, Michael J MJ

Publication Date: 2009-02

Variant appearance in text: LQT1: T600M

PubMed Link: 18823823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac potassium channel dysfunction in sudden infant death syndrome.

Journal Of Molecular And Cellular Cardiology

Rhodes, Troy E TE; Abraham, Robert L RL; Welch, Richard C RC; Vanoye, Carlos G CG; Crotti, Lia L; Arnestad, Marianne M; Insolia, Roberto R; Pedrazzini, Matteo M; Ferrandi, Chiara C; Vege, Ashild A; Rognum, Torleiv T; Roden, Dan M DM; Schwartz, Peter J PJ; George, Alfred L AL

Publication Date: 2008-03

Variant appearance in text: KCNQ1: T600M

PubMed Link: 18222468

Variant Present in the following documents:

• Main text

View BVdb publication page

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