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Article

Delineation of functionally essential protein regions for 242 neurodevelopmental genes.

Brain : a journal of neurology - 13 Feb 2023

Iqbal Sumaiya, Brünger Tobias, Pérez-Palma Eduardo, Macnee Marie, Brunklaus Andreas, Daly Mark J, Campbell Arthur J, Hoksza David, May Patrick, Lal Dennis

Abstract excerpt

Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and intellectual disabilities are heterogeneous conditions in which clinical genetic testing can often identify a pathogenic variant. For many of them, genetic therapies will be tested in this or the coming years in clinical trials. In contrast to first-generation symptomatic treatments, the new disease-modifying precision medicines...

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PMID: 36256779
DOI: 10.1093/brain/awac381
PMCID: PMC9924913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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