KCNQ1 c.1638G>A ;(p.S546=)

Variant ID: 11-2797237-G-A

NM_000218.2(KCNQ1):c.1638G>A;(p.S546=)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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: 1638G>A; S546S; rs1057128
PubMed Link: 36564540
Variant Present in the following documents:
  • 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1057128
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022

Variant appearance in text: KCNQ1: 1638G>A; S546S; rs1057128
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
View BVdb publication page



Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine
Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y
Publication Date: 2022

Variant appearance in text: rs1057128
PubMed Link: 36277747
Variant Present in the following documents:
  • Data_Sheet_1.xls, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: KCNQ1: S546S
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.

International Journal Of Molecular Sciences
Cócera-Ortega, Lucía L; Wilders, Ronald R; Kamps, Selina C SC; Fabrizi, Benedetta B; Huber, Irit I; van der Made, Ingeborg I; van den Bout, Anouk A; de Vries, Dylan K DK; Gepstein, Lior L; Verkerk, Arie O AO; Pinto, Yigal M YM; Tijsen, Anke J AJ
Publication Date: 2022-04-06

Variant appearance in text: rs1057128
PubMed Link: 35409410
Variant Present in the following documents:
  • Main text
  • ijms-23-04053.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: KCNQ1: Ser546Ser; rs1057128
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Npj Genomic Medicine
Torrado, Mario M; Fernández, Germán G; Ganoza, Christian A CA; Maneiro, Emilia E; García, Diego D; Sonicheva-Paterson, Natalia N; Rosa, Isaac I; Ochoa, Juan Pablo JP; Santomé, Luis L; Vasichkina, Elena E; Monserrat, Lorenzo L
Publication Date: 2021-03-04

Variant appearance in text: rs1057128
PubMed Link: 33664273
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_183.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1057128
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: KCNQ1: 1638G>A; Ser546=; rs1057128
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.

Molecular Genetics & Genomic Medicine
Liu, Xiumin X; Li, Yujie Y; Zhang, Huan H; Ji, Yuqiang Y; Zhao, Zhao Z; Wang, Changyu C
Publication Date: 2019-08

Variant appearance in text: rs1057128
PubMed Link: 31270966
Variant Present in the following documents:
  • Main text
  • MGG3-7-e835.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: KCNQ1: 1638G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1057128
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.

Journal Of The American Heart Association
Gibbs, Charlotte C; Thalamus, Jacob J; Tveten, Kristian K; Busk, Øyvind L ØL; Hysing, Jan J; Haugaa, Kristina H KH; Holla, Øystein L ØL
Publication Date: 2018-08-21

Variant appearance in text: KCNQ1: 1638G>A
PubMed Link: 30369311
Variant Present in the following documents:
  • JAH3-7-e009706.pdf
  • JAH3-7-e009706-s001.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: KCNQ1: 1638G>A; rs1057128
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: 1638G>A; S546S; rs1057128
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



Sequence Alterations of I(Ks) Potassium Channel Genes in Kazakhstani Patients with Atrial Fibrillation.

Central Asian Journal Of Global Health
Akilzhanova, Ainur A; Rakhimova, Saule S; Abilova, Zhannur Z; Nuralinov, Omirbek O; Rashbayeva, Gulzhaina G; Abdrakhmanov, Ayan A; Bekbosynova, Mahabbat M
Publication Date: 2014

Variant appearance in text: KCNQ1: S546S
PubMed Link: 29805884
Variant Present in the following documents:
  • cajgh-03-147.pdf
View BVdb publication page



Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Endocrine Connections
Iivonen, Anna-Pauliina AP; Känsäkoski, Johanna J; Karppinen, Atte A; Kivipelto, Leena L; Schalin-Jäntti, Camilla C; Karhu, Auli A; Raivio, Taneli T
Publication Date: 2018-05

Variant appearance in text: KCNQ1: 1638G>A; Ser546=; rs1057128
PubMed Link: 29703730
Variant Present in the following documents:
  • Main text
  • ec-7-645.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: KCNQ1: 1638G>A; Ser546=
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Genotype-phenotype correlation in long QT syndrome families.

Indian Pacing And Electrophysiology Journal
Qureshi, Sameera Fatima SF; Ali, Altaf A; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P
Publication Date: 2015

Variant appearance in text: KCNQ1: S546S
PubMed Link: 27479201
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: S546S; rs1057128
PubMed Link: 27325960
Variant Present in the following documents:
  • Main text
View BVdb publication page



Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Circulation. Arrhythmia And Electrophysiology
Bersell, Kevin K; Montgomery, Jay A JA; Kanagasundram, Arvindh N AN; Campbell, Courtney M CM; Chung, Wendy K WK; Macaya, Daniela D; Konecki, David D; Venter, Eli E; Shoemaker, M Benjamin MB; Roden, Dan M DM
Publication Date: 2016-06

Variant appearance in text: rs1057128
PubMed Link: 27286732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes.

Molecular Medicine Reports
Sun, Xiaojuan X; Sui, Weiguo W; Wang, Xiaobing X; Hou, Xianliang X; Ou, Minglin M; Dai, Yong Y; Xiang, Yueying Y
Publication Date: 2016-05

Variant appearance in text: rs1057128
PubMed Link: 27035118
Variant Present in the following documents:
  • Main text
  • mmr-13-05-3735.pdf
View BVdb publication page



Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Miao M; D'Aniello, Cristina C; Verkerk, Arie O AO; Wrobel, Eva E; Frank, Stefan S; Ward-van Oostwaard, Dorien D; Piccini, Ilaria I; Freund, Christian C; Rao, Jyoti J; Seebohm, Guiscard G; Atsma, Douwe E DE; Schulze-Bahr, Eric E; Mummery, Christine L CL; Greber, Boris B; Bellin, Milena M
Publication Date: 2014-12-16

Variant appearance in text: rs1057128
PubMed Link: 25453094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal
Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM
Publication Date: 2013

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 23710137
Variant Present in the following documents:
  • Main text
  • TSWJ2013-373454.pdf
View BVdb publication page



Several polymorphisms of KCNQ1 gene are associated with plasma lipid levels in general Chinese populations.

Plos One
Chen, Xing-dong XD; Yang, Ya-jun YJ; Li, Shu-yuan SY; Peng, Qian-qian QQ; Zheng, Li-juan LJ; Jin, Li L; Wang, Xiao-feng XF
Publication Date: 2012

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 22479571
Variant Present in the following documents:
  • Main text
  • pone.0034229.pdf
View BVdb publication page



Evaluation of allelic expression of imprinted genes in adult human blood.

Plos One
Frost, Jennifer M JM; Monk, Dave D; Stojilkovic-Mikic, Taita T; Woodfine, Kathryn K; Chitty, Lyn S LS; Murrell, Adele A; Stanier, Philip P; Moore, Gudrun E GE
Publication Date: 2010-10-21

Variant appearance in text: rs1057128
PubMed Link: 21042416
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathology (Zurich, Switzerland)
Tu, Emily E; Bagnall, Richard D RD; Duflou, Johan J; Semsarian, Christopher C
Publication Date: 2011-03

Variant appearance in text: KCNQ1: Ser546Ser; rs1057128
PubMed Link: 20875080
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells.

Epigenetics
Frost, Jennifer J; Monk, Dave D; Moschidou, Dafni D; Guillot, Pascale V PV; Stanier, Philip P; Minger, Stephen L SL; Fisk, Nicholas M NM; Moore, Harry D HD; Moore, Gudrun E GE
Publication Date: 2011-01

Variant appearance in text: rs1057128
PubMed Link: 20864803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.

Plos One
Frost, Jennifer M JM; Udayashankar, Ramya R; Moore, Harry D HD; Moore, Gudrun E GE
Publication Date: 2010-07-14

Variant appearance in text: rs1057128
PubMed Link: 20644730
Variant Present in the following documents:
  • Main text
  • pone.0011595.pdf
View BVdb publication page



Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Lehtinen, Allison B AB; Daniel, Kurt R KR; Shah, Sidharth A SA; Nelson, Matthew R MR; Ziegler, Julie T JT; Freedman, Barry I BI; Carr, J Jeffrey JJ; Herrington, David M DM; Langefeld, Carl D CD; Bowden, Donald W DW
Publication Date: 2009-01

Variant appearance in text: KCNQ1: S546S; rs1057128
PubMed Link: 19149796
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S546S; rs1057128
PubMed Link: 18426444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.

Cancer Biology & Therapy
Tan, Aik Choon AC; Fan, Jian-Bing JB; Karikari, Collins C; Bibikova, Marina M; Garcia, Eliza Wickham EW; Zhou, Lixin L; Barker, David D; Serre, David D; Feldmann, Georg G; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M; Couch, Fergus J FJ; Hudson, Thomas J TJ; Winslow, Raimond L RL; Maitra, Anirban A; Chakravarti, Aravinda A
Publication Date: 2008-01

Variant appearance in text: rs1057128
PubMed Link: 18059179
Variant Present in the following documents:
  • Main text
View BVdb publication page