Ciliopathy
Genetic disease resulting in abnormal formation or function of cilia
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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice