Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study was to assess the ratio of SNVs in known deafness genes contributing to the etiology of both sporadic and familial se...

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Detalles Bibliográficos
Autores principales: Yuan, Yongyi, Li, Qi, Su, Yu, Lin, Qiongfen, Gao, Xue, Liu, Hankui, Huang, Shasha, Kang, Dongyang, Todd, N. Wendell, Mattox, Douglas, Zhang, Jianguo, Lin, Xi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974605/
https://www.ncbi.nlm.nih.gov/pubmed/31541171
http://dx.doi.org/10.1038/s41431-019-0510-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974605/
https://www.ncbi.nlm.nih.gov/pubmed/31541171
http://dx.doi.org/10.1038/s41431-019-0510-6

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