2022
DOI: 10.20944/preprints202205.0280.v1
|View full text |Cite
Preprint
|
Sign up to set email alerts
|

Analysis of the Structural Protein Effects Caused by the PURA p.Phe233del Mutation Associated to Cognitive Developmental Delay Using Artificial Intelligence and Hybrid Quantum Mechanics-Molecular Mechanics Modelling

Abstract: A whole-exome capture and next-generation sequencing applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, severe cognitive deficit, without any identifiable Syndromic pattern, and to her parents, disclosed a de novo heterozygous pathogenic mutation, c.697_699del p.Phe233del (rs786204835)(ACMG classification PS2, PM1, PM2, PP5), harbored in the PURA gene (MIM*600473) (5q31.3), associated to Autosomal Dominant Mental Retardation 3… Show more

Help me understand this report
View published versions

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Publication Types

Select...

Relationship

0
0

Authors

Journals

citations
Cited by 0 publications
references
References 15 publications
0
0
0
Order By: Relevance

No citations

Set email alert for when this publication receives citations?