相关实验视频

Updated: Jan 13, 2026

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

Published on: January 16, 2019

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在越南儿童中识别致病变体 具有功能单心室的越南儿童 基于全外测序

Le Trong Tu1,2, Nguyen Thi Kim Lien3, Nguyen Van Tung3,4

  • 1Department of Pediatrics, Hanoi Medical University, Hanoi 100000, Vietnam.

Diagnostics (Basel, Switzerland)
|October 29, 2025
PubMed
概括

这项研究确定了功能单心室 (FSV) 患者的遗传变异,揭示了这种复杂的先天性心脏病的潜在原因. 研究结果指导FSV的未来治疗和预防策略.

关键词:
越南患者中的越南患者.功能性单心室 (FSV)病原性变体的病原性变体表型-基因型表型整体外基因组测序 (WES) 测序

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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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