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
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.
Wang K et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2009
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Garcia-Gonzalez MA et al.
Molecular Genetics and Metabolism, 0
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