Varaico: Literature-Extracted Genetic Variants

Gene:IGF1R
Variant:p.R252C
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IGF1R

NM_000875.5:p.R252C

Associated Papers

Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies.

Bulger DA et al.

G3 (bethesda, Md.), 2017

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

Hamer I et al.

Diabetologia, 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."