Structural Protein Effects Underpinning Cognitive Developmental Delay of the <i>PURA</i> 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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Hauptverfasser:	Juan Javier López-Rivera, Luna Rodríguez-Salazar, Alejandro Soto-Ospina, Carlos Estrada-Serrato, David Serrano, Henry Mauricio Chaparro-Solano, Olga Londoño, Paula A. Rueda, Geraldine Ardila, Andrés Villegas-Lanau, Marcela Godoy-Corredor, Mauricio Cuartas, Jorge I. Vélez, Oscar M. Vidal, Mario A. Isaza-Ruget, Mauricio Arcos-Burgos
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2022-06-01
Schriftenreihe:	Brain Sciences
Schlagworte:	Purine-rich element binding protein A gene PURA transcriptional activator protein Pur-alpha cognitive developmental delay mental retardation Mutation c.697_699del p.Phe233del
Online-Zugang:	https://www.mdpi.com/2076-3425/12/7/871
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