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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 
NMD escaping variant +  
NMD triggering variant +  
null mutation +  
transcript function variant +  
A sequence variant which alters the functioning of a transcript with respect to a reference sequence.
translational product function variant +  

Synonyms
Exact Synonyms: transcript function variant
Definition Sources: SO:ke

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