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Updated: Jun 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in

Fulvio D'Abrusco1, Valentina Serpieri1, Cecilia Maria Taccagni1

  • 1Department of Molecular Medicine, University of Pavia, Pavia, Italy.

European Journal of Human Genetics : EJHG
|October 11, 2024
PubMed

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