Publications:

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: 77G>A; Gly26Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).

Circulation

Vijayakumar, Ramya R; Silva, Jennifer N A JNA; Desouza, Kavit A KA; Abraham, Robert L RL; Strom, Maria M; Sacher, Frederic F; Van Hare, George F GF; Haïssaguerre, Michel M; Roden, Dan M DM; Rudy, Yoram Y

Publication Date: 2014-11-25

Variant appearance in text: KCNQ1: G26D

PubMed Link: 25294783

Variant Present in the following documents:

• Main text

View BVdb publication page