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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Kevin Venus1,2,3, Janice L Kwan1,2,4, David W Frost5,6,7
1Division of General Internal Medicine and Geriatrics, University Health Network and Sinai Health System, Toronto, Canada.
Diagnosing rare conditions presents significant challenges, often leading to delayed or missed diagnoses. This perspective explores current diagnostic reasoning, mitigation strategies, and the future role of AI in improving rare disease diagnosis.
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