Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Medrxiv : The Preprint Server For Health Sciences
Lewis, Morag A MA; Schulte, Jennifer J; Matthews, Lois L; Vaden, Kenneth I KI; Steves, Claire J CJ; Williams, Frances M K FMK; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP
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: S1PR2: 857T>A; Val286Asp