Aug 2026
A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.
A novel missense variant is characterized that causes aberrant splicing of PKHD1 in CD and underscores the necessity of functional analysis for evaluating the pathogenicity of missense variants, especially those at the last nucleotide of an exon.
Hui Huang, Chen Cheng, Peiwen Chen et al.
· Gene · 0 citations