GeneticsBMC Medical GenomicsPeer-reviewed
Evaluating Variants of Uncertain Significance in Adult Knock-in Zebrafish: A Proof of Concept with a COL1A2 Variant
Michiel Vanhooydonck, Sophie Debaenst, Eva Vanbelleghem…·Bert Louis Callewaert
This study evaluates a COL1A2 variant of uncertain significance using zebrafish knock-in models, showing that pathogenic variants cause skeletal abnormalities while VUS and benign variants do not.
2 citations