Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.Y30*
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INSR

NM_000208.4:p.Y30*

Associated Papers

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.

Simpkin A et al.

Nephron. Physiology, 2014

Metreleptin improves blood glucose in patients with insulin receptor mutations.

Brown RJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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

Differentiated Thyroid Cancer in Severe Insulin Resistance.

Kushchayeva Y et al.

Aace Endocrinology and Diabetes, 0

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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."