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: WFS1: 2158A>C; Ile720Leu
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.
Diabetes
Fawcett, Katherine A KA; Wheeler, Eleanor E; Morris, Andrew P AP; Ricketts, Sally L SL; Hallmans, Göran G; Rolandsson, Olov O; Daly, Allan A; Wasson, Jon J; Permutt, Alan A; Hattersley, Andrew T AT; Glaser, Benjamin B; Franks, Paul W PW; McCarthy, Mark I MI; Wareham, Nicholas J NJ; Sandhu, Manjinder S MS; Barroso, Inês I