A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
一项多中心研究揭示了OTOF基因中一种新的致病性剪接位点创始变异。
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00819-5
Brownstein, Zippora; Kamal, Lara; Mishan-Montefiori, Shir; Hoffman, Yael; Fine, Dina; Hirsch, Yoel; Weiden, Tzvi; Birnbaum, Rivka; Mor-Shaked, Hagar; Davidov, Bella; Yaron, Yuval; Avraham, Karen B