Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.H483R
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HNF1A

NM_000545.8:p.H483R

Associated Papers

An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.

Kickova T et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2024

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Dusatkova P et al.

Acta Diabetologica, 2022

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 2021

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

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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."