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
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.
Fang B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
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