Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.E124*
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INSR

NM_000208.4:p.E124*

Associated Papers

Insulin Resistance in Human iPS Cells Reduces Mitochondrial Size and Function.

Burkart AM et al.

Scientific Reports, 2016

26948272 (PubMed )
Supplement: srep22788-s1.pdf

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.

Alzahrani AS et al.

Clinical Endocrinology, 2012

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

Thiel CT et al.

Molecular Genetics and Metabolism, 2008

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."