Article

Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cortex

2024-07-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background & Objective</h4> Congenital brain malformations and neurodevelopmental disorders (NDDs) are common pediatric neurological disorders and result in chronic disability. With the expansion of genetic testing, new etiologies for NDDs are continually uncovered, with as many as one third attributable to single-gene pathogenic variants. While our ability to identify pathogenic variants h...

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Literature Corpus work: 07749563-4e23-592b-a49b-c87595bb766a
DOI: 10.1101/2024.07.01.601597

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