Associated Papers
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Cross JL et al.
Clinical Genetics, 2015
Select a paper to view details