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: 1927G>A; Gly643Ser

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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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: KCNQ1: G643S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

View BVdb publication page

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: KCNQ1: 1927G>A; G643S; rs1800172

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.

Journal Of The American Heart Association

Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M

Publication Date: 2022-03-15

Variant appearance in text: KCNQ1: G643S

PubMed Link: 35243873

Variant Present in the following documents:

• Main text
• JAH3-11-e023446.pdf

View BVdb publication page

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Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine

He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G

Publication Date: 2021-09-21

Variant appearance in text: KCNQ1: G643S

PubMed Link: 34622229

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Synthetic Cannabinoids and Cathinones Cardiotoxicity: Facts and Perspectives.

Current Neuropharmacology

Radaelli, Davide D; Manfredi, Alessandro A; Zanon, Martina M; Fattorini, Paolo P; Scopetti, Matteo M; Neri, Margherita M; Frisoni, Paolo P; D'Errico, Stefano S

Publication Date: 2021

Variant appearance in text: KCNQ1: G643S

PubMed Link: 33845747

Variant Present in the following documents:

• Main text
• CN-19-2038.pdf

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: KCNQ1: G643S

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1

View BVdb publication page

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Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology

Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2020

Variant appearance in text: KCNQ1: Gly643Ser

PubMed Link: 33013630

Variant Present in the following documents:

• Main text
• fneur-11-00925.pdf

View BVdb publication page

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Ventricular Arrhythmia Risk Based on Ethnicity in COVID-19 Patients on Hydroxychloroquine and Azithromycin Combination: Viewpoint.

Sn Comprehensive Clinical Medicine

Roy, Sayak S; MainakMukhopadhyay,

Publication Date: 2020

Variant appearance in text: KCNQ1: G643S

PubMed Link: 32838150

Variant Present in the following documents:

• Main text
• 42399_2020_Article_370.pdf

View BVdb publication page

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Ventricular Arrhythmia Risk Based on Ethnicity in COVID-19 Patients on Hydroxychloroquine and Azithromycin Combination: Viewpoint.

Sn Comprehensive Clinical Medicine

Roy, Sayak S; MainakMukhopadhyay,

Publication Date: 2020-06-27

Variant appearance in text: KCNQ1: G643S

PubMed Link: 32838150

Variant Present in the following documents:

• Main text
• 42399_2020_Article_370.pdf

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: KCNQ1: 1927G>A; G643S; rs1800172

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: KCNQ1: 1927G>A; G643S; rs1800172

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Chinese Medical Journal

Liu, Shuang S; You, Yan Y; Chen, Dan D; Qian, Jia-Ming JM; Li, Ji J

Publication Date: 2019-12-20

Variant appearance in text: KCNQ1: G643S; rs1800172

PubMed Link: 31764169

Variant Present in the following documents:

• cm9-132-3001-s001.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 1927G>A; G643S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.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: 1927G>A

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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COL4A3 Gene Variants and Diabetic Kidney Disease in MODY.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Wang, Yiting Y; Zhang, Junlin J; Zhao, Yingwang Y; Wang, Shanshan S; Zhang, Jie J; Han, Qianqian Q; Zhang, Rui R; Guo, Ruikun R; Li, Hanyu H; Li, Li L; Wang, Tingli T; Tang, Xi X; He, Changzheng C; Teng, Geer G; Gu, Weiyue W; Liu, Fang F

Publication Date: 2018-08-07

Variant appearance in text: KCNQ1: G643S

PubMed Link: 30012629

Variant Present in the following documents:

• Main text

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: KCNQ1: 1927G>A; G643S; rs1800172

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use.

Scientific Reports

Nagasawa, Sayaka S; Saitoh, Hisako H; Kasahara, Shiori S; Chiba, Fumiko F; Torimitsu, Suguru S; Abe, Hiroko H; Yajima, Daisuke D; Iwase, Hirotaro H

Publication Date: 2018-05-31

Variant appearance in text: KCNQ1: G643S

PubMed Link: 29855564

Variant Present in the following documents:

• Main text
• 41598_2018_Article_26723.pdf

View BVdb publication page

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Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation

Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ

Publication Date: 2018-02-06

Variant appearance in text: KCNQ1: Gly643Ser

PubMed Link: 29431662

Variant Present in the following documents:

• Main text

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: G643S

PubMed Link: 29197658

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.

International Journal Of Molecular Sciences

Kim, Ah Reum AR; Chung, Juyong J; Kim, Nayoung K D NKD; Lee, Chung C; Park, Woong-Yang WY; Oh, Doo-Yi DY; Choi, Byung Yoon BY

Publication Date: 2017-10-26

Variant appearance in text: KCNQ1: G643S

PubMed Link: 29072634

Variant Present in the following documents:

• Main text
• ijms-18-02246.pdf

View BVdb publication page

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Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Circulation. Cardiovascular Genetics

Li, Bian B; Mendenhall, Jeffrey L JL; Kroncke, Brett M BM; Taylor, Keenan C KC; Huang, Hui H; Smith, Derek K DK; Vanoye, Carlos G CG; Blume, Jeffrey D JD; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J

Publication Date: 2017-10

Variant appearance in text: KCNQ1: G643S

PubMed Link: 29021305

Variant Present in the following documents:

• Main text

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: KCNQ1: G643S; rs1800172

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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: 1927G>A; Gly643Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Gene expression in pediatric heart disease with emphasis on conotruncal defects.

Progress In Pediatric Cardiology

Bittel, Douglas C DC; Kibiryeva, Nataliya N; O'Brien, James E JE; Lofland, Gary K GK; Butler, Merlin G MG

Publication Date: 2005-07

Variant appearance in text: KCNQ1: G643S

PubMed Link: 28529438

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: KCNQ1: G643S

PubMed Link: 28316956

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: KCNQ1: 1927G>A; G643S

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

View BVdb publication page

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Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Heart Asia

Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK

Publication Date: 2010

Variant appearance in text: KCNQ1: G643S; rs1800172

PubMed Link: 27325960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: G643S; rs1800172

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: G643S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Single-nucleotide variations in cardiac arrhythmias: prospects for genomics and proteomics based biomarker discovery and diagnostics.

Genes

Abunimer, Ayman A; Smith, Krista K; Wu, Tsung-Jung TJ; Lam, Phuc P; Simonyan, Vahan V; Mazumder, Raja R

Publication Date: 2014-03-27

Variant appearance in text: KCNQ1: G643S; rs1800172

PubMed Link: 24705329

Variant Present in the following documents:

• Main text
• genes-05-00254.pdf

View BVdb publication page

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Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

The Journal Of Pediatrics

Chang, Ruey-Kang R RK; Lan, Yueh-Tze YT; Silka, Michael J MJ; Morrow, Hallie H; Kwong, Alan A; Smith-Lang, Janna J; Wallerstein, Robert R; Lin, Henry J HJ

Publication Date: 2014-03

Variant appearance in text: KCNQ1: 1927G>A; Gly643Ser

PubMed Link: 24388587

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: G643S

PubMed Link: 22947121

Variant Present in the following documents:

• Main text
• 2050-6511-13-6.pdf

View BVdb publication page

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: KCNQ1: G643S

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

View BVdb publication page

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg

Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS

Publication Date: 2012-08

Variant appearance in text: KCNQ1: G643S

PubMed Link: 22378279

Variant Present in the following documents:

• Main text
• ejhg201223a.pdf

View BVdb publication page

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A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.

Heart Rhythm

Marjamaa, Annukka A; Oikarinen, Lasse L; Porthan, Kimmo K; Ripatti, Samuli S; Peloso, Gina G; Noseworthy, Peter A PA; Viitasalo, Matti M; Nieminen, Markku S MS; Toivonen, Lauri L; Kontula, Kimmo K; Peltonen, Leena L; Havulinna, Aki S AS; Jula, Antti A; O'Donnell, Christopher J CJ; Newton-Cheh, Christopher C; Perola, Markus M; Salomaa, Veikko V

Publication Date: 2012-07

Variant appearance in text: KCNQ1: G643S

PubMed Link: 22342860

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm

Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C

Publication Date: 2010-12

Variant appearance in text: KCNQ1: G643S

PubMed Link: 20817017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates.

The Canadian Journal Of Cardiology

Subbiah, Rajesh N RN; Gollob, Michael H MH; Gula, Lorne J LJ; Davies, Robert W RW; Leong-Sit, Peter P; Skanes, Allan C AC; Yee, Raymond R; Klein, George J GJ; Krahn, Andrew D AD

Publication Date: 2010-04

Variant appearance in text: KCNQ1: G643S

PubMed Link: 20386770

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Liu, Judy F JF; Goldenberg, Ilan I; Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A AA; Hofman, Nynke N; McNitt, Scott S; Zareba, Wojciech W; Miyamato, Yoshihiro Y; Robinson, Jennifer L JL; Andrews, Mark L ML

Publication Date: 2008-07

Variant appearance in text: KCNQ1: G643S

PubMed Link: 18713323

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Zhang, Yu Y; Chang, Bingxi B; Hu, Songnian S; Wang, Duenmei D; Fang, Quan Q; Huang, Xianyong X; Zeng, Qiang Q; Qi, Ming M

Publication Date: 2008-04

Variant appearance in text: KCNQ1: G643S; rs1800172

PubMed Link: 18426444

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.

British Journal Of Clinical Pharmacology

Koo, Seok Hwee SH; Ho, Woon Fei WF; Lee, Edmund Jon Deoon EJ

Publication Date: 2006-03

Variant appearance in text: KCNQ1: G643S

PubMed Link: 16487223

Variant Present in the following documents:

• Main text

View BVdb publication page

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