Associated Papers
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32939031 (PubMed )
Supplement: 41436_2020_963_MOESM1_ESM.pdf
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C et al.
Journal of the American Society of Nephrology : Jasn, 2003
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