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Updated: Sep 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the

Giulia Amico1,2, Wayne O Hemphill3,4,5, Mariasavina Severino6

  • 1Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.

Genes
|July 27, 2022
PubMed

Keywords:
Aicardi-Goutières SyndromeCADASIL-like geneticsTREX1 disordersTREX1 functional assaymonogenic strokesmall vessel diseasestroke genetics

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