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... > Genetic Phenomena > Genetic Variation > Mutation > Allelic Imbalance > Loss of Heterozygosity > Haploinsufficiency
Genetic Phenomena > Genotype > Gene Dosage > Haploinsufficiency

Terme préférentiel

Haploinsufficiency  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-WS3TPK5R-B

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RDF/XML TURTLE JSON-LD Date de création 25/06/2010