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Updated: Jun 15, 2025

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[神经瘤患者中SH2B3的遗传变异]

Qiang Ma1, Rong-Hua Hu1, Hong Zhao1

  • 1Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.

Zhongguo shi yan xue ye xue za zhi
|August 27, 2024
PubMed
概括

在髓状瘤中观察到SH2B3基因的遗传变异. 最常见的是p.Ile568Thr突变,并且经常与其他特征突变共存.

关键词:
骨髓状瘤;遗传突变;遗传突变;

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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