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Updated: Jun 11, 2025

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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MDA5 gain-of-function associated with a Glu794del mutation
Callie Wong1, Lukas Gerasimavicius1, Yanick J Crow2,3
1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Journal of Clinical Immunology
|October 2, 2024
Summary
No abstract available in PubMed .

