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

ABSTRACT: 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,...

Full description

Autores:

Soto Ospina, Johnny Alejandro
Villegas Lanau, Carlos Andrés
Arcos Burgos, Oscar Mauricio
López Rivera, Juan Javier
Rodríguez Salazar, Luna
Estrada Serrato, Carlos
Serrano, David
Chaparro Solano, Henry Mauricio
Londoño, Olga
Rueda, Paula A.
Ardila, Geraldine
Godoy Corredor, Marcela
Cuartas, Mauricio
Vélez Valbuena, Jorge Iván
Vidal, Oscar M.
Isaza Ruget, Mario A.

Tipo de recurso:

Article of investigation

Fecha de publicación:

2022

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/41084

Acceso en línea:

https://hdl.handle.net/10495/41084

Palabra clave:

Encefalopatías
Brain Diseases
Encéfalo
Brain
Discapacidades del Desarrollo
Developmental Disabilities
Discapacidad Intelectual
Intellectual Disability
https://id.nlm.nih.gov/mesh/D001927
https://id.nlm.nih.gov/mesh/D001921
https://id.nlm.nih.gov/mesh/D002658
https://id.nlm.nih.gov/mesh/D008607

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/