Article

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

2022-05-20

Abstract excerpt

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), harb...

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Literature Corpus work: 68da27a0-1e67-5822-81b2-ac00a0e7aa87
DOI: 10.20944/preprints202205.0280.v1

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