Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.Y30*
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INSR

NM_000208.4:p.Y30*

Associated Papers

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

Choi JH et al.

Hormone Research in Paediatrics, 2015

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

Simpkin A et al.

Nephron. Physiology, 2014

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O et al.

Molecular Genetics and Metabolism Reports, 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."