Varaico: Literature-Extracted Genetic Variants

Gene:ANKS6
Variant:p.L434delFs
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ANKS6

NM_173551.5:p.L434delFs

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 and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.

Kulkarni S et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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