Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q130H
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HNF1A

NM_000545.8:p.Q130H

Associated Papers

Hepatocyte nuclear factor-α genetic mutation in a Chinese pedigree with maturity-onset diabetes of the young (MODY3).

Zhang M et al.

Diabetes/metabolism Research and Reviews, 2015

26436572 (PubMed )
Supplement: supplement_1.pdf

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL et al.

European Journal of Endocrinology, 2011

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

[The genetic and clinical characteristics of transcription factor 1 gene mutations in Chinese diabetes].

Yang Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees.

Yang Z et al.

Chinese Medical Journal, 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."