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A novel non-sense variant in the OFD1 gene caused Joubert syndrome.
Li C, Wang X, Li F, Ding H, Liu L, Xiong Y, Yang C, Zhang Y, Wu J, Yin A. Li C, et al. Among authors: li f. Front Genet. 2023 Jan 10;13:1064762. doi: 10.3389/fgene.2022.1064762. eCollection 2022. Front Genet. 2023. PMID: 36704348 Free PMC article.
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.
Liu C, Huang Y, Zhang Y, Ding H, Yu L, Wang A, Wang Y, Zeng Y, Liu L, Liu Y, Qi Y, Li F, Wu J, Du L, Mai F, Zhang Q, Wang X, Yin A. Liu C, et al. Among authors: li f. Int J Pediatr Otorhinolaryngol. 2022 Oct;161:111258. doi: 10.1016/j.ijporl.2022.111258. Epub 2022 Jul 31. Int J Pediatr Otorhinolaryngol. 2022. PMID: 35939872
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