Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss

Background: We examined the genetic variants of a Chinese family with a 22-month-old infant with sporadic non-syndromic sensorineural hearing loss (NSHL). Methods: The whole-exome sequence data in the family, especially the de novo variants presented in the patient, were analyzed and the effect of t...

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Detalles Bibliográficos
Autores principales: Hu, Sijing, Zhang, Hao, Liu, Yunqiang, Liu, Mohan, Li, Jingjing, Liao, Shunyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422347/
https://www.ncbi.nlm.nih.gov/pubmed/34567527
http://dx.doi.org/10.12688/f1000research.27739.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422347/
https://www.ncbi.nlm.nih.gov/pubmed/34567527
http://dx.doi.org/10.12688/f1000research.27739.2

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