Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A311D
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HNF1A

NM_000545.8:p.A311D

Associated Papers

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese.

Gao A et al.

Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders, 2021

33216280 (PubMed )
Supplement: 13300_2020_960_MOESM1_ESM.docx

New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.

Ma Y et al.

Bmj Open Diabetes Research & Care, 2020

Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes.

Rama Chandran S et al.

Therapeutic Advances in Endocrinology and Metabolism, 2018

Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes.

Huang X et al.

Journal of Diabetes Research, 2018

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.

Xu JY et al.

European Journal of Human Genetics : Ejhg, 2005

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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."