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Eric J Nelson1, Sarah L McKune2, Kathleen A Ryan1

  • 1Department of Pediatrics, University of Florida College of Medicine, Gainesville.

JAMA
|February 19, 2021
PubMed
まとめ

No abstract available in PubMed .

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Single Nucleotide Polymorphisms-SNPs01:05

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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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