KCNQ1 c.1515-3772G>T

Variant ID: 11-2786302-G-T

NM_000218.2(KCNQ1):c.1515-3772G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells.

Elife
Stillitano, Francesca F; Hansen, Jens J; Kong, Chi-Wing CW; Karakikes, Ioannis I; Funck-Brentano, Christian C; Geng, Lin L; Scott, Stuart S; Reynier, Stephan S; Wu, Ma M; Valogne, Yannick Y; Desseaux, Carole C; Salem, Joe-Elie JE; Jeziorowska, Dorota D; Zahr, Noël N; Li, Ronald R; Iyengar, Ravi R; Hajjar, Roger J RJ; Hulot, Jean-Sébastien JS
Publication Date: 2017-01-30

Variant appearance in text: rs151288
PubMed Link: 28134617
Variant Present in the following documents:
  • Main text
  • elife-19406.pdf
View BVdb publication page



Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

European Journal Of Human Genetics : Ejhg
Romanelli, Valeria V; Meneses, Heloisa N M HN; Fernández, Luis L; Martínez-Glez, Victor V; Gracia-Bouthelier, Ricardo R; F Fraga, Mario M; Guillén, Encarna E; Nevado, Julián J; Gean, Esther E; Martorell, Loreto L; Marfil, Victoria Esteban VE; García-Miñaur, Sixto S; Lapunzina, Pablo P
Publication Date: 2011-04

Variant appearance in text: rs151288
PubMed Link: 21248736
Variant Present in the following documents:
  • Main text
View BVdb publication page