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: 1589A>C; Gln530Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Cardiac Evaluation of Children With a Family History of Sudden Death.

Journal Of The American College Of Cardiology

Webster, Gregory G; Olson, Rachael R; Schoppen, Zachary J ZJ; Giancola, Nicholas N; Balmert, Lauren C LC; Cherny, Sara S; George, Alfred L AL

Publication Date: 2019-08-13

Variant appearance in text: KCNQ1: Gln530Pro

PubMed Link: 31395126

Variant Present in the following documents:

• Main text

View BVdb publication page