Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
MacCarrick G; Aradhya S; Bailey M; Chu D; Hunt A; Izzo E; Krakow D; Mackenzie W · 2024 · American journal of medical genetics. Part A
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States…
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Metadata source: Europe PMC · DOI 10.1002/ajmg.a.63646