Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Cell

• Publication date

  2015-07-30

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.cell.2015.07.003PMID 26232222PMCID PMC4524551
• 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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  1993cited by this paper
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  1986cited by this paper
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  1975cited by this paper

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