The UMD–APC Database, a Model of Nation‐Wide Knowledge Base: Update with Data from 3,581 Variations

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Human Mutation

• Publication date

  2014-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/humu.22539PMID 24599579
• 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.

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  2008cited by this paper
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  2006cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  1999cited by this paper
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  1998cited by this paper
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  1996cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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