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Concept information

Preferred term

haploinsuficiencia

Type

  • Topic

Definition

  • Information Variación en el número de copias que da lugar a una dosis génica reducida como resultado de una mutación de pérdida funcional. La pérdida de heterocigosidad se asocia a fenotipos anormales o enfermedades, dado que el gen restante resulta insuficiente.

In other languages

URI

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

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RDF/XML TURTLE JSON-LD Created 9/18/18, last modified 11/14/18