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Diagnostic Yield of Exome and Genome Sequencing after Non-Diagnostic Multi-Gene Panels in Patients with Single-System Diseases

Matheus V. M. B. Wilke,Eric W. Klee,Radhika Dhamija,Fernando C. Fervenza,Brittany Thomas,Nelson Leung,Marie C. Hogan,Megan M. Hager,Kayla J. Kolbert,Jennifer L. Kemppainen,Elle C. Loftus, Katie M. Leitzen,Carolyn R. Vitek,Tammy McAllister,Konstantinos N. Lazaridis,Filippo Pinto e Vairo

Orphanet Journal of Rare Diseases（2024）

Cited 0|Views25

Key words

Rare diseases,Genetic testing,Diagnostic yield,Gene panels,Exome,Genome

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