Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecular Mechanics Framework

A whole-exome capture and next-generation sequencing was applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, and severe cognitive deficit, and without any identifiable Syndromic pattern, and to her parents, we disclo...

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Detalles Bibliográficos
Autores principales: López-Rivera, Juan Javier, Rodríguez-Salazar, Luna, Soto-Ospina, Alejandro, Estrada-Serrato, Carlos, Serrano, David, Chaparro-Solano, Henry Mauricio, Londoño, Olga, Rueda, Paula A., Ardila, Geraldine, Villegas-Lanau, Andrés, Godoy-Corredor, Marcela, Cuartas, Mauricio, Vélez, Jorge I., Vidal, Oscar M., Isaza-Ruget, Mario A., Arcos-Burgos, Mauricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313109/
https://www.ncbi.nlm.nih.gov/pubmed/35884678
http://dx.doi.org/10.3390/brainsci12070871

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