Meta analysis of variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Mayara Jorgens Prado, Rodrigo Ligabue‐Braun, Arnaldo Zaha, Maria Lúcia Rosa Rossetti, Amit V. Pandey
The paper evaluates in silico variant predictors for CYP21A2 SNVs, finding high accuracy for severe phenotypes but variability for mild ones.
bioRxiv · Dec 21, 2021 · PreprintGenetics