Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E228*
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HNF1A

NM_000545.8:p.E228*

Associated Papers

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

Huynh VT et al.

Kidney International, 2020

Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.

Jeannot E et al.

Diabetes, 2010

Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC.

Zucman-Rossi J et al.

Hepatology (baltimore, Md.), 2006

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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."