Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L44insFs
Back to variants list

HNF1A

NM_000545.8:p.L44insFs

Associated Papers

Primary hepatocellular adenoma due to biallelic HNF1A mutations and its co-occurrence with MODY 3: case-report and review of the literature.

Fu J et al.

Endocrine, 2020

A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis.

de Vries AG et al.

Journal of Hepatology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."