KCNH2 c.1655T>C ;(p.L552S)

Variant ID: 7-150648826-A-G

NM_000238.3(KCNH2):c.1655T>C;(p.L552S)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06

Variant appearance in text: KCNH2: 1655T>C; L552S; rs199472918
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT2: L552S
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Human Molecular Genetics
Copier, Jaël S JS; Bootsma, Marianne M; Ng, Chai A CA; Wilde, Arthur A M AAM; Bertels, Robin A RA; Bikker, Hennie H; Christiaans, Imke I; van der Crabben, Saskia N SN; Hol, Janna A JA; Koopmann, Tamara T TT; Knijnenburg, Jeroen J; Lommerse, Aafke A J AAJ; van der Smagt, Jasper J JJ; Bezzina, Connie R CR; Vandenberg, Jamie I JI; Verkerk, Arie O AO; Barge-Schaapveld, Daniela Q C M DQCM; Lodder, Elisabeth M EM
Publication Date: 2022-10-21

Variant appearance in text: KCNH2: L552S
PubMed Link: 36269083
Variant Present in the following documents:
  • Main text
  • ddac261.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs199472918
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs199472918
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



The Efficacy of Beta-Blockers in Patients With Long QT Syndrome 1-3 According to Individuals' Gender, Age, and QTc Intervals: A Network Meta-analysis.

Frontiers In Pharmacology
Han, Lu L; Liu, Fuxiang F; Li, Qing Q; Qing, Tao T; Zhai, Zhenyu Z; Xia, Zirong Z; Li, Juxiang J
Publication Date: 2020

Variant appearance in text: LQT2: L552S
PubMed Link: 33381033
Variant Present in the following documents:
  • Main text
  • fphar-11-579525.pdf
View BVdb publication page



Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01

Variant appearance in text: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature.

Briefings In Bioinformatics
Lee, Kyubum K; Wei, Chih-Hsuan CH; Lu, Zhiyong Z
Publication Date: 2021-05-20

Variant appearance in text: KCNH2: L552S
PubMed Link: 32770181
Variant Present in the following documents:
  • Main text
  • bbaa142.pdf
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells.

Cells
Shah, Disheet D; Prajapati, Chandra C; Penttinen, Kirsi K; Cherian, Reeja Maria RM; Koivumäki, Jussi T JT; Alexanova, Anna A; Hyttinen, Jari J; Aalto-Setälä, Katriina K
Publication Date: 2020-05-07

Variant appearance in text: KCNH2: 1655T>C
PubMed Link: 32392813
Variant Present in the following documents:
  • Main text
  • cells-09-01153.pdf
View BVdb publication page



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: KCNH2: 1655T>C; L552S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Journal Of Biomedical Science
Osman, Junaida J; Tan, Shing Cheng SC; Lee, Pey Yee PY; Low, Teck Yew TY; Jamal, Rahman R
Publication Date: 2019-05-22

Variant appearance in text: KCNH2: Leu552Ser; rs199472918
PubMed Link: 31118017
Variant Present in the following documents:
  • Main text
  • 12929_2019_Article_535.pdf
View BVdb publication page



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: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: KCNH2: L552S; rs199472918
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The genetic architecture of long QT syndrome: A critical reappraisal.

Trends In Cardiovascular Medicine
Giudicessi, John R JR; Wilde, Arthur A M AAM; Ackerman, Michael J MJ
Publication Date: 2018-10

Variant appearance in text: KCNH2: Leu552Ser
PubMed Link: 29661707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics
Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H
Publication Date: 2018-04-05

Variant appearance in text: KCNH2: L552S
PubMed Link: 29622001
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_574.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: KCNH2: 1655T>C; rs199472918
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: KCNH2: 1655T>C; Leu552Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KCNH2: 1655T>C; L552S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: KCNH2: L552S
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



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: LQT2: L552S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: KCNH2: Leu552Ser; rs199472918
PubMed Link: 26332594
Variant Present in the following documents:
  • Main text
  • pone.0135193.s002.xls, sheet 1
  • pone.0135193.pdf
View BVdb publication page



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: KCNH2: L552S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KCNH2: L552S
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

Plos One
Schweigmann, Ulrich U; Biliczki, Peter P; Ramirez, Rafael J RJ; Marschall, Christoph C; Takac, Ina I; Brandes, Ralf P RP; Kotzot, Dieter D; Girmatsion, Zenawit Z; Hohnloser, Stefan H SH; Ehrlich, Joachim R JR
Publication Date: 2014

Variant appearance in text: KCNH2: L552S
PubMed Link: 25140878
Variant Present in the following documents:
  • Main text
  • pone.0103150.pdf
View BVdb publication page



Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.

Annals Of Medicine
Lahtinen, Annukka M AM; Havulinna, Aki S AS; Noseworthy, Peter A PA; Jula, Antti A; Karhunen, Pekka J PJ; Perola, Markus M; Newton-Cheh, Christopher C; Salomaa, Veikko V; Kontula, Kimmo K
Publication Date: 2013-06

Variant appearance in text: KCNH2: L552S
PubMed Link: 23651034
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: KCNH2: 1655T>C; L552S
PubMed Link: 23098067
Variant Present in the following documents:
  • Main text
  • 1471-2261-12-95.pdf
View BVdb publication page



KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

Bmc Medical Genetics
Lahtinen, Annukka M AM; Marjamaa, Annukka A; Swan, Heikki H; Kontula, Kimmo K
Publication Date: 2011-01-18

Variant appearance in text: KCNH2: L552S
PubMed Link: 21244686
Variant Present in the following documents:
  • Main text
View BVdb publication page



LQTS gene LOVD database.

Human Mutation
Zhang, Tao T; Moss, Arthur A; Cong, Peikuan P; Pan, Min M; Chang, Bingxi B; Zheng, Liangrong L; Fang, Quan Q; Zareba, Wojciech W; Robinson, Jennifer J; Lin, Changsong C; Li, Zhongxiang Z; Wei, Junfang J; Zeng, Qiang Q; , ; , ; Qi, Ming M
Publication Date: 2010-11

Variant appearance in text: KCNH2: Leu552Ser
PubMed Link: 20809527
Variant Present in the following documents:
  • Main text
  • humu0031-E1801.pdf
View BVdb publication page



High prevalence of four long QT syndrome founder mutations in the Finnish population.

Annals Of Medicine
Marjamaa, Annukka A; Salomaa, Veikko V; Newton-Cheh, Christopher C; Porthan, Kimmo K; Reunanen, Antti A; Karanko, Hannu H; Jula, Antti A; Lahermo, Päivi P; Väänänen, Heikki H; Toivonen, Lauri L; Swan, Heikki H; Viitasalo, Matti M; Nieminen, Markku S MS; Peltonen, Leena L; Oikarinen, Lasse L; Palotie, Aarno A; Kontula, Kimmo K
Publication Date: 2009

Variant appearance in text: KCNH2: L552S
PubMed Link: 19160088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducibility of computerized measurements of QT interval from multiple leads at rest and during exercise.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Hekkala, Anna-Mari AM; Väänänen, Heikki H; Swan, Heikki H; Oikarinen, Lasse L; Viitasalo, Matti M; Toivonen, Lauri L
Publication Date: 2006-10

Variant appearance in text: HERG: L552S
PubMed Link: 17040280
Variant Present in the following documents:
  • Main text
View BVdb publication page