Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.A1162V
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INSR

NM_000208.4:p.A1162V

Associated Papers

Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.

Pliszka M et al.

International Journal of Molecular Sciences, 2025

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.

Rojas Velazquez MN et al.

International Journal of Molecular Sciences, 2024

Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.

Dos Santos SS et al.

Hormone Research in Paediatrics, 2021

Rabson Mendenhall Syndrome caused by a novel missense mutation.

Sinnarajah K et al.

International Journal of Pediatric Endocrinology, 2016

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.

Mohanan S et al.

International Journal of Dermatology, 2013

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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."