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Novel GANAB variants associated with polycystic liver disease
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)...
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| Veröffentlicht in: | Orphanet J Rare Dis |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7585303/ https://ncbi.nlm.nih.gov/pubmed/33097077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01585-4 |
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