Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.L233P
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INSR

NM_000208.4:p.L233P

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

Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells.

Iovino S et al.

Diabetes, 2014

Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Kim D et al.

Journal of Korean Medical Science, 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

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.

Maassen JA et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC-1 in dermal fibroblasts from patients with syndromes of severe insulin resistance.

Whitehead JP et al.

Clinical Endocrinology, 1997

Activation of glucose transport by a natural mutation in the human insulin receptor.

Longo N et al.

Proceedings of the National Academy of Sciences of the United States of America, 1993

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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."