Associated Papers
PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.
Li Z et al.
Nephrology (carlton, Vic.), 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.
Okada M et al.
Pediatric Nephrology (berlin, Germany), 2006
Novel mutations in the duplicated region of PKD1 gene.
Perrichot R et al.
European Journal of Human Genetics : Ejhg, 2000
Select a paper to view details