Article

Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification

2023-11-02

Abstract excerpt

AlphaMissense is a recently developed method that is designed to classify missense variants into pathogenic, benign, or ambiguous categories across the entire human proteome. Asparagine Synthetase Deficiency (ASNSD) is a developmental disorder associated with severe symptoms, including congenital microcephaly, seizures, and premature death. Diagnosing ASNSD relies on identifying mutations in the asparagine synthet...

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Literature Corpus work: d19bfe34-29f8-5d20-92d1-fafbb8b04f87
DOI: 10.1101/2023.10.30.564808

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