Varaico: Literature-Extracted Genetic Variants

Gene:ANKS6
Variant:p.M539_L540Splc
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ANKS6

NM_173551.5:p.M539_L540Splc

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

Mitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion.

Airik M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."