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
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran EZ et al.
Journal of the American Society of Nephrology : Jasn, 2014
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S et al.
Nature Genetics, 2013
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