Next-generation sequencing in Chinese patients with nephronophthisis

NIAID Data Ecosystem2026-03-12 收录

肾消耗病遗传学

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数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP253384 数据链接链接失效反馈

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资源简介：

The study was designed to explore the pathogenic gene mutations and clinical and pathological features of Chinese patients with nephronophthisis (NPHP).

创建时间：

2020-12-31

Fast forward genetics: mutation mapping and identification using next-generation sequencing and enrichment of bulk segregant pools. Arabidopsis thaliana

植物突变体基因定位

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Phenotype-driven forward genetic experiments are among the most powerful approaches for linking biology and disease to genomic elements. Although widely used in a range of model organisms, positional

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A Chinese proband sequencing

病毒基因测序

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A Chinese Han pedigree with HLCS deficiency diagnosed using next-generation sequencing.The Chinese proband carries a reported Arg508Trp variant, a novel 2-bp frameshift mutation c.1006_1007delGA (p.Gl

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Data_Sheet_1_Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.PDF

X连锁智力障碍

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Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregatin

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Evaluating the Potential of using Next-Generation Sequencing for Direct Clinical Diagnostics of Faecal Samples from Patients with Diarrhoea

腹泻病原体检测

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Diarrhoea is a major global disease burden and rapid, precise identification of the causative pathogens is important to initiate patient treatment and to discover and handle potential outbreaks. The c

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Table 5_Identification of causative agents of infective endocarditis by metagenomic next-generation sequencing of resected valves.xlsx

感染性心内膜炎病原体检测

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BackgroundInfective endocarditis (IE) is a rare and life-threatening condition with considerable mortality rates. Diagnosis is often complicated by negative blood culture results, limiting the accurat

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Next-generation sequencing in Chinese patients with nephronophthisis

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