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