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: 14218G>A; Ala4740Thr
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Scientific Reports
Han, Jae Joon JJ; Nguyen, Pham Dinh PD; Oh, Doo-Yi DY; Han, Jin Hee JH; Kim, Ah-Reum AR; Kim, Min Young MY; Park, Hye-Rim HR; Tran, Lam Huyen LH; Dung, Nguyen Huu NH; Koo, Ja-Won JW; Lee, Jun Ho JH; Oh, Seung Ha SH; Anh Vu, Hoang H; Choi, Byung Yoon BY
Publication Date: 2019-02-07
Variant appearance in text: USH2A: 14218G>A; Ala4740Thr