Article

Integrated genetic code expansion and structural bioinformatics reveal disrupted supramolecular assembly in a genetic disorder

2023-07-24

Abstract excerpt

<h4>ABSTRACT</h4> Deciphering the structural effects of variants is essential for understanding the pathophysiological mechanisms of genetic diseases. Using a neurodevelopmental disorder called Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) as a genetic disease model, we applied a combined Genetic Code Expansion (GCE) and structural bioinformatics strategy to assess the pathogenic impact of several human N...

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Literature Corpus work: 0a6e5958-e48a-59ef-b84d-1c37baaa4a52
DOI: 10.1101/2023.07.24.550340

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