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: 1111G>A; Ala371Thr
Calcium/calmodulin-dependent protein kinase II regulation of IKs during sustained β-adrenergic receptor stimulation.
Heart Rhythm
Shugg, Tyler T; Johnson, Derrick E DE; Shao, Minghai M; Lai, Xianyin X; Witzmann, Frank F; Cummins, Theodore R TR; Rubart-Von-der Lohe, Michael M; Hudmon, Andy A; Overholser, Brian R BR