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: 10939G>A; Gly3647Ser
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
International Journal Of Molecular Sciences
Reurink, Janine J; Oostrik, Jaap J; Aben, Marco M; Ramos, Mariana Guimarães MG; van Berkel, Emma E; Ołdak, Monika M; van Wijk, Erwin E; Kremer, Hannie H; Roosing, Susanne S; Cremers, Frans P M FPM
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Molecular Genetics & Genomic Medicine
Krawitz, Peter M PM; Schiska, Daniela D; Krüger, Ulrike U; Appelt, Sandra S; Heinrich, Verena V; Parkhomchuk, Dmitri D; Timmermann, Bernd B; Millan, Jose M JM; Robinson, Peter N PN; Mundlos, Stefan S; Hecht, Jochen J; Gross, Manfred M