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Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss

BACKGROUND: Variants in the MYO7A gene are increasingly identified among patients suffering from Usher syndrome type 1B (USH1B). However, such mutations are less commonly detected among patients suffering from nonsyndromic hearing loss (NSHL), including autosomal recessive deafness (DFNB2) and autos...

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Detalles Bibliográficos
Autores principales: Xiang, Yanbao, Xu, Chenyang, Xu, Yunzhi, Zhou, Lili, Tang, Shaohua, Xu, Xueqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701874/
https://www.ncbi.nlm.nih.gov/pubmed/36164746
http://dx.doi.org/10.1002/jcla.24708