GeneticsbioRxivPreprint
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification
Stephen J. Staklinski, Armin Scheben, Adam C. Siepel, Michael S. Kilberg
This study evaluates AlphaMissense's ability to classify ASNS variants in ASNSD, finding it accurately identifies most known pathogenic variants and provides a useful tool for variant classification.
11 citations