Article

Meta analysis of variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2

2021-12-23

Abstract excerpt

<h4>Context</h4> CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia cases (CAH), a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provides critical tools to elucidate complex CAH cases. One of the most accessible tools to infer the pathogenicity of new variants is in silico prediction. <h4>Objective</h4> Analyze the performance of in silico pr...

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Literature Corpus work: 0acce69d-1ca6-5bba-bd79-14f9398bb462
DOI: 10.1101/2021.12.21.473700

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