Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.G340A
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HNF4A

NM_175914.5:p.G340A

Associated Papers

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

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Gaál Z et al.

Life (basel, Switzerland), 2021

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

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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."