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: 10202T>C; Ile3401Thr
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Cold Spring Harbor Molecular Case Studies
Kiraly-Borri, Catherine C; Jevon, Gareth G; Ji, Weizhen W; Jeffries, Lauren L; Ricciardi, Jamie-Lee JL; Konstantino, Monica M; Ackerman, Kate G KG; Lakhani, Saquib A SA
Publication Date: 2019-06
Variant appearance in text: USH2A: 10202T>C; Ile3401Thr; rs755754255