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: GLA: 322G>A; Ala108Thr
Analysis of lyso-globotriaosylsphingosine in dried blood spots.
Annals Of Laboratory Medicine
Johnson, Britt B; Mascher, Hermann H; Mascher, Daniel D; Legnini, Elisa E; Hung, Christina Y CY; Dajnoki, Angela A; Chien, Yin-Hsiu YH; Maródi, László L; Hwu, Wuh-Liang WL; Bodamer, Olaf A OA