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: 1018T>C; Phe340Leu
Long QT Syndrome Type 1 in an Australian Indigenous Patient.
Circulation. Genomic And Precision Medicine
Ganesan, Anand N AN; Vanoye, Carlos G CG; Alam, Ferdous F; Waddell-Smith, Kathryn E KE; McGavigan, Andrew D AD; Correnti, Gemma G; Haan, Eric E; Brown, Alex A; Vandenberg, Jamie J; George, Alfred L AL