Varaico: Literature-Extracted Genetic Variants

Gene:RFX6
Variant:p.H293delFs
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RFX6

NM_173560.4:p.H293delFs

Associated Papers

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.

Ibrahim H et al.

Diabetologia, 2024

Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.

Harsunen M et al.

Diabetologia, 2023

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

Patel KA et al.

Nature Communications, 2017

29026101 (PubMed )
Supplement: 41467_2017_895_MOESM1_ESM.pdf

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."