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: USH2A: 15281C>T; Pro5094Leu
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Almontashiri, Naif A M NAM; Alswaid, Abdulrahman A; Oza, Andrea A; Al-Mazrou, Khalid A KA; Elrehim, Omnia O; Tayoun, Ahmad Abou AA; Rehm, Heidi L HL; Amr, Sami S SS
Publication Date: 2018-04
Variant appearance in text: USH2A: 15281C>T; Pro5094Leu