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Updated: Jun 27, 2025

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在16p11.2的运动困难复制号变化.

Amandeep Jutla1,2, Loraine Harvey3, Jeremy Veenstra-VanderWeele1,2

  • 1Department of Psychiatry, Columbia University, New York, New York, USA.

Autism research : official journal of the International Society for Autism Research
|April 25, 2024
PubMed
概括

罕见的基因变异16p11.2删除和16p11.2重复不同影响运动技能. 删除与较大的毛运动障碍有关,而重复与较小的细运动障碍有关.

关键词:
16p11.2 删除综合征DNA复制号变异的变化自闭症 谱系障碍 自闭症 谱系障碍人类遗传学人类遗传学运动技巧 运动技巧运动运动运动运动运动运动.现象型 现象型 是一种现象型.

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Comparing Copy Number Variations and SNPs02:26

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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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