Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.R256C
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INSR

NM_000208.4:p.R256C

Associated Papers

Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in INSR gene.

Chrzanowska J et al.

Frontiers in Endocrinology, 2025

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.

Zhou Q et al.

Frontiers in Endocrinology, 2021

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

Hosoe J et al.

Diabetes, 2017

Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: report of two cases.

Kuroda Y et al.

Endocrine Journal, 2015

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O et al.

Molecular Genetics and Metabolism Reports, 2014

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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."