Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
McCluskey M et al.
Human Mutation, 2002
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S et al.
American Journal of Human Genetics, 2001
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