TSC1
结节性硬化
桑格测序
TSC2
遗传学
基因
生物
DNA测序
基因组DNA
突变
等位基因
计算生物学
医学
病理
细胞凋亡
PI3K/AKT/mTOR通路
作者
Wei‐Liang Liu,Fang Li,Zhixu He,Rong Ai
出处
期刊:PubMed
[National Institutes of Health]
日期:2022-01-10
卷期号:39 (1): 68-71
标识
DOI:10.3760/cma.j.cn511374-20201013-00716
摘要
The mosaicism heterozygous variant of c.3295_3298delG of the TSC2 gene, as detected by both NGS and Sanger sequencing, probably underlay the TSC2 in this patient.
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