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...

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Detalles Bibliográficos
Autores principales: Staklinski, Stephen J., Scheben, Armin, Siepel, Adam, Kilberg, Michael S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
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

Internet

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

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