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Updated: May 17, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在CTNS基因中有害的非同义SNP的计算预测:对囊病的含义

Leila Adda Neggaz1, Amira Chahinez Dahmani2,3, Ibtissem Derriche4

  • 1Laboratory of Molecular and Cellular Genetics (LGMC), University of Sciences and Technology of Oran Mohamed Boudiaf, Oran, Algeria. addaneggaz.leila@gmail.com.

BMC genomic data
|May 15, 2025
PubMed
概括

这项研究确定了CTNS基因中的19种有害的遗传变异,这些变异会影响囊素的功能,这对于预防囊病至关重要. 这些发现提供了对疾病机制和囊病的潜在治疗点的见解.

关键词:
在CTNS基因中,CTNS基因这种类型的菌素是cystinosin.囊病是发生在囊中的一种.在In Silico分析中.Lysosomal 运输是通过 Lysosomal 运输发生的.分子动力学模拟的模拟.这就是NSSNP.蛋白质的稳定性 蛋白质的稳定性

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