Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.W206*
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HNF1A

NM_000545.8:p.W206*

Associated Papers

Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.

Yorifuji T et al.

Journal of Diabetes Investigation, 2023

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Marucci A et al.

Acta Diabetologica, 2023

Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant.

Tan CSH et al.

European Journal of Human Genetics : Ejhg, 2020

Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas.

Martagón AJ et al.

Diabetes Care, 2018

A family with a novel termination mutation in hepatic nuclear factor 1α in maturity-onset diabetes of the young type 3 which is unresponsive to sulphonylurea therapy.

Demol S et al.

Hormone Research in Paediatrics, 2014

Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.

Enya M et al.

Human Mutation, 2008

[Glibenclamide instead of insulin: a new chance for MODY 3 type diabetes patients: case report].

Brunerová L et al.

Vnitrni Lekarstvi, 2006

[Current treatment options in Maturity-Onset Diabetes of the Young].

Brunerová L et al.

Vnitrni Lekarstvi, 0

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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."