Associated Papers
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.
Liu K et al.
Clinical Genetics, 2023
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Schwarz H et al.
Human Molecular Genetics, 2022
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