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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness

To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to confirm the gene mutation in the proband, and...

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Detalles Bibliográficos
Autores principales:	Zhao, Jing, Zhang, Siqi, Jiang, Yuan, Liu, Yan, Wang, Jiantao, Zhu, QingWen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789122/ https://www.ncbi.nlm.nih.gov/pubmed/36564540 http://dx.doi.org/10.1038/s41598-022-26850-3

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