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Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification
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 mi...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634951/ https://www.ncbi.nlm.nih.gov/pubmed/37961642 http://dx.doi.org/10.1101/2023.10.30.564808 |