LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Nucleic Acids Res.

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine, Computer Science

• Identifiers
  DOI 10.1093/NAR/26.1.248PMID 9399845PMCID PMC147253
• 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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  1992cited by this paper
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  1990cited by this paper
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  1985cited by this paper
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  1985cited by this paper
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