Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L254Q
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HNF1A

NM_000545.8:p.L254Q

Associated Papers

HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.

Haque E et al.

Genes, 2022

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

Malikova J et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.

Hechtman JF et al.

Human Pathology, 2019

Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.

Nessa A et al.

Frontiers in Endocrinology, 2016

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

Rozenkova K et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."