Associated Papers
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1
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
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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