Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E227K
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HNF1A

NM_000545.8:p.E227K

Associated Papers

Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.

Yu F et al.

Chinese Medical Journal, 2025

40178110 (PubMed )
Supplement: cm9-138-1129-s001.pdf

Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency.

Muto T et al.

Pediatric Investigation, 2023

A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.

Kontogianni G et al.

Cancers, 2023

36765773 (PubMed )
Supplement: cancers-15-00815-s001.zip › Tables_S1-S7.xlsx › Supplementary_Table_1

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Bouvet D et al.

Human Mutation, 2023

40225161 (PubMed )
Supplement: 6661013.f3.pdf

Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes.

Devaraja J et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2020

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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."