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A novel MYO6MYO6 variants identified in a Chinese family with autosomal dominant nonsyndromic hearing loss

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NIAID Data Ecosystem2026-05-01 收录
下载链接:
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA1063509
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资源简介:
We reported a novel likely pathogenic missense (c.2063A>G) variant within MYO6MYO6 in patients with DFNA22. Our findings expanded the variant spectrum of the MYO6MYO6 gene and ADNSHL in Chinese individuals, that help help offer offer early clinical genetic diagnosis and accurate accurate genetic genetic counseling counseling of patients.
创建时间:
2024-01-11
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