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Enhancing Diagnostic Outcomes in Kidney Genetic Disorders: the KidGen National Kidney Genomics Study Protocol.

Amali Mallawaarachchi,Hugh McCarthy,Thomas A. Forbes,Kushani Jayasinghe,Chirag Patel, Stephen I. Alexander,Tiffany Boughtwood,Jeffrey Braithwaite,Aron Chakera,Sam Crafter,Ira W. Deveson,Randall Faull, Trudie Harris,Lilian Johnstone,Matthew Jose, Anna Leaver,Melissa H. Little,Daniel MacArthur,Tessa Mattiske, Christine Mincham,Kathy Nicholls,Catherine Quinlan,Michael C. J. Quinn,Gopala Rangan,Jessica Ryan,Cas Simons,Ian Smyth,Madhivanan Sundaram,Peter Trnka,Laura Wedd,Erik Biros,Zornitza Stark,Andrew Mallett

BMC Nephrology（2025）

引用 0|浏览3
关键词
Study protocol,Genetic kidney disease,Undiagnosed patients,Re-analysis,Advanced genomic testing,Diagnostic yield
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