Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.R1027*
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INSR

NM_000208.4:p.R1027*

Associated Papers

Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.

Imamovic M et al.

Jcem Case Reports, 2024

A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Michelini S et al.

Journal of Personalized Medicine, 2022

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Tuhan H et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.

Mahmud Z et al.

Biomed Research International, 2016

Genotype-phenotype correlation in inherited severe insulin resistance.

Longo N et al.

Human Molecular Genetics, 2002

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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."