Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R288R
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HNF4A

NM_175914.5:p.R288R

Associated Papers

Pregnancy Complicated by Maternal MODY 3 and Paternal MODY 2 Diabetes and Subsequent Rapidly Falling Insulin Requirement.

Mikuscheva A et al.

Case Reports in Obstetrics and Gynecology, 2018

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 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

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."