Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.M1180K
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INSR

NM_000208.4:p.M1180K

Associated Papers

Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome.

L'Amie AK et al.

Jcem Case Reports, 2025

Management of pregnancy with metformin: Case reports for genetic insulin resistance syndrome and a literature review for gestational and type 2 diabetes.

Yoshimura K et al.

Journal of Diabetes Investigation, 2025

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys).

Prehn EL et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2025

Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys.

Crowley MT et al.

Clinical Diabetes and Endocrinology, 2024

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Sethi A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

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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."