Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.G132S
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INSR

NM_000208.4:p.G132S

Associated Papers

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Collin-Chavagnac D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

Ben Abdelaziz R et al.

European Journal of Medical Genetics, 2016

Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion.

Seghers V et al.

The Journal of Biological Chemistry, 2000

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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."