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Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)
Authors:Monique Losekoot  Cathleen Haarloo  Claudia Ruivenkamp  Stefan J. White  Martijn H. Breuning  Dorien J. M. Peters
Affiliation:(1) Center for Human and Clinical Genetics, Sylvius Laboratory, Leiden University Medical Center, Wassenaarseweg 72, 2333, AL, Leiden, The Netherlands
Abstract:
Keywords:ARPKD   PKHD1   Polycystic kidney disease  Mutations
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