Variation in genome-wide mutation rates within and between human families

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Nature Genetics

• Publication date

  2011-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/ng.862PMID 21666693PMCID PMC3322360
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Evolution of the mutation rate.

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  2000cited by this paper
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  2000cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1947cited by this paper
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  1935cited by this paper

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