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Article

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.

Med (New York, N.Y.) - 12 May 2023

Koval Alexey, Larasati Yonika A, Savitsky Mikhail, Solis Gonzalo P, Good Jean-Marc, Quinodoz Mathieu, Rivolta Carlo, Superti-Furga Andrea, Katanaev Vladimir L

Abstract excerpt

BACKGROUND: The GNAO1 gene, encoding the major neuronal G protein Gαo, is mutated in a subset of pediatric encephalopathies. Most such mutations consist of missense variants. METHODS: In this study, we present a precision medicine workflow combining next-generation sequencing (NGS) diagnostics, molecular etiology analysis, and personalized drug discovery. FINDINGS: We describe a patient carrying a de novo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37001522
DOI: 10.1016/j.medj.2023.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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