Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q541_V542Splc
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HNF1A

NM_000545.8:p.Q541_V542Splc

Associated Papers

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

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

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Giuffrida FMA et al.

Diabetes Research and Clinical Practice, 2017

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

Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations.

Brackenridge A et al.

Diabetes, 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."