Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.R141W
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INSR

NM_000208.4:p.R141W

Associated Papers

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.

Wang K et al.

World Journal of Diabetes, 2026

Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.

Pliszka M et al.

International Journal of Molecular Sciences, 2025

Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.

Al-Kandari H et al.

Primary Care Diabetes, 2021

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Bastaki F et al.

Hormone Research in Paediatrics, 2017

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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."