Exome re-analysis increases the diagnostic yield of monogenic diseases in children

Pediatr Neonatol. 2024 Oct 23:S1875-9572(24)00183-9. doi: 10.1016/j.pedneo.2024.10.001. Online ahead of print.

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PMID:39472210 | DOI:10.1016/j.pedneo.2024.10.001