Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R290C
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HNF4A

NM_175914.5:p.R290C

Associated Papers

Sulphonylurea efficacy and end-organ outcomes in the management of HNF4A-MODY.

Crowley MT et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2025

aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+).

Schreiner Y et al.

Journal of Clinical Medicine, 2023

37834755 (PubMed )
Supplement: jcm-12-06111-s001.zip › jcm-2620792-supplementary.pdf

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

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC et al.

Clinical Chemistry, 2020

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).

Özdemir TR et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.

Bacon S et al.

Acta Diabetologica, 2016

Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young.

Kyithar MP et al.

Journal of Translational Medicine, 2013

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K et al.

Human Mutation, 2013

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.

Kyithar MP et al.

Diabetes & Metabolism, 2011

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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."