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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
dominant negative variant 
gain of function variant 
lethal variant 
loss of function variant 
loss of heterozygosity 
A functional variant whereby the sequence alteration causes a loss of function of one allele of a gene.
NMD escaping variant +  
NMD triggering variant +  
null mutation +  
transcript function variant +  
translational product function variant +  

Synonyms
Exact Synonyms: LOH
Related Synonyms: loss of heterozygosity
Definition Sources: SO:ke

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