Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.A167fs
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HNF1B

NM_000458.4:p.A167fs

Associated Papers

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.

Gambella A et al.

Cells, 2023

Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.

Pinon M et al.

Italian Journal of Pediatrics, 2019

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.

Thomas CP et al.

Kidney International, 2008

Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

Beckers D et al.

The Journal of Pediatrics, 2007

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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."