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Updated: Jul 10, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Published on: January 16, 2019

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鉴定了两个家族的基因变异与克拉托科努斯

Qinghong Lin1,2,3,4,5,6, Xuejun Wang1,2,3,4,5, Tian Han1,2,3,4,5

  • 1Department of Ophthalmology, Eye and ENT Hospital, Fudan University, No. 83 Fenyang Road, Shanghai, 200000, Xuhui District, China.

BMC medical genomics
|November 22, 2023
PubMed
概括

在基因分析中,发现了 TSC1 和 ALDH3A1 基因的新型变异,这些变异发生在患有角 (KC) 的中国家庭中. 这些发现表明,这些遗传变化在KC的发展中可能发挥作用.

关键词:
这就是ALDH3A1A1的含量.遗传变异是一种基因变异.克拉托科努斯 (Keratoconus) 是一种类型的角质球.这就是TSC1的特点.

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