Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.H293fs
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RFX6

NM_173560.4:p.H293fs

Associated Papers

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.

Sriram A et al.

Diabetes, 2025

Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.

Teerawattanapong N et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Patel KA et al.

Nature Communications, 2017

Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.

Huopio H et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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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."