Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.

Abstract excerpt

Due to the increased usage of high throughput sequencing for the diagnosis of genetically inherited disorders, it is vital to evaluate the risk of new variants and novel genes before accepting them in clinical practice. However, discordant in silico and in vitro results, challenge estimations of the effect of an identified genetic variant. We aimed to comprehensively evaluate pathogenic and polymorphic variants...

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