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NALT Concept Space
U.S. Department of Agriculture

NALT Full

Concept information

  1. Research, Technology, Methods
  2. genetic resources
  3. genotype
  4. gene dosage
  5. haploinsufficiency
  1. Natural Resources, Conservation, Environment
  2. biological resources
  3. genetic resources
  4. genotype
  5. gene dosage
  6. haploinsufficiency
  1. Fields of Study
  2. molecular genetics
  3. mutation
  4. allelic imbalance
  5. loss of heterozygosity
  6. haploinsufficiency

Término preferido

haploinsufficiency

Tipo

  • Topic

Definición

  • Information 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.

    Fuente: Medical Subject Headings

    Tipo: Concept definition

Concepto genérico

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En otras lenguas

URI

https://lod.nal.usda.gov/nalt/324466

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RDF/XML TURTLE JSON-LD Creado 18/9/18, última modificación 14/11/18