Article

Monoallelic <i>CRMP1</i> gene variants cause neurodevelopmental disorder

2022-07-06

Abstract excerpt

Collapsing response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the CRMP1 gene in three unrelated individuals with muscular hypotonia, intellectual disability and/or autism spectrum disorder. Based on in silico analysis these variants are predicted to affect the CRMP1 structure. We further...

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Literature Corpus work: 0222643a-bbbe-5a57-839f-fc35d0d3d4be
DOI: 10.1101/2022.07.05.22276556

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