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: NF2: 1396C>G; Arg466Gly
Re-evaluation of missense variant classifications in NF2.
Human Mutation
Sadler, Katherine V KV; Rowlands, Charlie F CF; Smith, Philip T PT; Hartley, Claire L CL; Bowers, Naomi L NL; Roberts, Nicola Y NY; Harris, Jade L JL; Wallace, Andrew J AJ; Evans, D Gareth DG; Messiaen, Ludwine M LM; Smith, Miriam J MJ