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genetika 2
MeSH Descriptor
Source: MeSH 2021 deskriptory
Main Heading
haploinsuficience
English Heading
Haploinsufficiency
Preferred Concept
Scope Note
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.
History note
2011
Public Note
2011
Record number
D057895
Persistent link
Allowable qualifiers (subheadings)
[DE] účinky léků
[GE] genetika
[IM] imunologie
[PH] fyziologie
[RE] účinky záření
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