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: 1444A>G; Thr482Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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

Publication Date: 2018-06

Variant appearance in text: KCNQ1: T482A

PubMed Link: 29410121

Variant Present in the following documents:

• Main text

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