Case report
Open access
Jan 2026
Biallelic WDR19 Variants: Systematic Analysis of Genotype–Phenotype Correlations
Genotype–phenotype analyses indicated that the presence of a truncating variant was associated with increased likelihood of skeletal involvement and reduced likelihood of hepatobiliary disease compared with individuals harbouring only missense variants, and variants located outside repeat protein domains were associate...
Zoe Webster, Lisa Woods, R. Dalziel et al.
· Human Mutation · 0 citations