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: 10004T>C; Ile3335Thr
Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.
Genome Medicine
Vettore, Andre Luiz AL; Ramnarayanan, Kalpana K; Poore, Gregory G; Lim, Kevin K; Ong, Choon Kiat CK; Huang, Kie Kyon KK; Leong, Hui Sun HS; Chong, Fui Teen FT; Lim, Tony Kiat-Hon TK; Lim, Weng Khong WK; Cutcutache, Ioana I; Mcpherson, John R JR; Suzuki, Yuka Y; Zhang, Shenli S; Skanthakumar, Thakshayeni T; Wang, Weining W; Tan, Daniel S W DS; Cho, Byoung Chul BC; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P; Iyer, N Gopalakrishna NG