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Updated: Jun 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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一部小说TSC2 c.2489T>C与结核性硬化综合症相关的错误变体:案例报告

Yujie Lai1, Yuanye Ma1, Biao Luo1

  • 1From the Department of Neurology and Center for Clinical Neuroscience (Y. Lai, Y.M., B.L.); and Department of Health Management (Y. Long), Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, China.

Neurology. Genetics
|May 8, 2024
PubMed
概括

结核性硬化综合体 (TSC) 是一种罕见的遗传疾病,导致多个器官的瘤. 这个案例突出了TSC的特点.

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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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