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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: zeng y. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 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: zeng y. 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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