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Article

Novel GANAB variants associated with polycystic liver disease

23 Oct 2020

Abstract excerpt

BACKGROUND: Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB variants. GANAB encodes the α-subunit of glucosidase II (GIIα). Here, we report the identification of novel GANAB variants in an international cohort of patients with the primary...

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PMID: 33097077
DOI: 10.1186/s13023-020-01585-4

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