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MeSH 搜索器

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
推出的年份: 2011
副标题
树号: G05.365.590.029.530.587, G05.380.350.500
MeSH 单一 ID: D057895
进入的组:
  • Haploinsufficiencies
早前的内容:
  • Haplotypes (1994-2010)
  • Heterozygote (1996-2010)
  • Loss of Heterozygosity (1994-2010)
  • Mutation (1994-2010)

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